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38 results on '"Sophie Bayart"'

1. Pubertal development of transfusion-dependent thalassemia patients in the era of oral chelation with deferasirox: results from the French registry

Author: Mathilde Veneziano Broccia, Julia Vergier, Audrey Benoit, Yoann Huguenin, Anne Lambilliotte, Marie Pierre Castex, Stephanie Gourdon, Ghislaine Ithier, Kamila Kebaili, Pierre Rohrlich, Corinne Pondarre, Abdourahim Chamouine, Pauline Simon, Kokou Placide Agbo Kpati, Slimane Allali, Sandrine Baron-Joly, Sophie Bayart, Nicolas Billaud, Valentine Brousse, Cecile Dumesnil, Nathalie Garnier, Isabelle Guichard, Laure Joseph, Annie Kamdem, Julie Maitre, Catherine Mathey, Catherine Paillard, Aurelie Phulpin, Cecile Renard, Cecile Stoven, Mohamed Touati, Capucine Trochu, Suzanne Mathieu Nafissi, Catherine Badens, Sarah Szepetowski, and Isabelle Thuret
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Abstract: Not available.
Published: 2024
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2. Prediction of the Clinical Course of Immune Thrombocytopenia in Children by Platelet Kinetics

Author: Julien Lejeune, Violette Raoult, Mathilde Dubrasquet, Romane Chauvin, Coralie Mallebranche, Isabelle Pellier, Françoise Monceaux, Sophie Bayart, Audrey Grain, Emmanuel Gyan, Noémie Ravalet, Olivier Herault, and David Ternant
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Abstract: Childhood immune thrombocytopenia (ITP) is a rare autoimmune disorder characterized by isolated thrombocytopenia. Prolonged ITP (persistent and chronic) leads to a reduced quality of life for children in many domains. To provide optimal support for children, with ITP, it is important to be able to predict those who will develop prolonged ITP. This study aimed to develop a mathematical model based on platelet recovery that allows the early prediction of prolonged ITP. In this retrospective study, we used platelet counts from the 6 months following the diagnosis of ITP to model the kinetics of change in platelet count using a pharmacokinetic–pharmacodynamic model. In a learning set (n = 103), platelet counts were satisfactorily described by our kinetic model. The Kheal parameter, which describes spontaneous platelet recovery, allowed a distinction between acute and prolonged ITP with an area under the curve (AUC) of 0.74. In a validation set (n = 58), spontaneous platelet recovery was robustly predicted using platelet counts from 15 (AUC = 0.76) or 30 (AUC = 0.82) days after ITP diagnosis. In our model, platelet recovery quantified using the kheal parameter allowed prediction of the clinical course of ITP. Future prospective studies are needed to improve the predictivity of this model, in particular, by combining it with the predictive scores previously reported in the literature.
Published: 2023
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3. P1451: PUBERTAL DEVELOPMENT OF TRANSFUSION DEPENDENT THALASSEMIA PATIENTS AT THE ERA OF ORAL CHELATION WITH DEFERASIROX: RESULTS OF THE FRENCH NATIONAL REGISTRY NATHALY

Author: Mathilde Veneziano, Audrey Benoit, Yoann Huguenin, Anne Lambilliotte, Marie-Pierre Castex, Stephanie Gourdon, Ghislaine Ithier, Kamila Kebaili, Pierre-Simon Rohrlich, Corinne Pondarre, Abdourahim Chamouine, Pauline Simon, Placide Agbo-Kpati-Kokou, Slimane Allali, Sandrine Baron-Joly, Sophie Bayart, Nicolas Billaud, Valentine Brousse, Cecile Dumesnil, Nathalie Garnier, Isabelle Guichard, Laure Joseph, Annie Kamdem, Julie Maitre, Catherine Mathey, Catherine Paillard, Aurélie Phulpin, Cécile Renard, Cecile Stoven, Mohamed Touati, Capucine Trochu, Suzanne Mathieu, Julia Vergier, Catherine Badens, Szepetowski Sarah, and Isabelle Thuret
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Published: 2023
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4. P1672: OCCUPATIONAL INTEGRATION OF ADULTS WITH SEVERE HAEMOPHILIA (INTHEMO): A STUDY BASED ON THE FRANCECOAG REGISTRY

Author: Ngoc Anh Thu Nguyen, Pascal Auquier, Any Beltran Anzola, Roseline D’oiron, Thierry Lambert, Céline Falaise, Christine Biron, Anne Lienhart, Jenny Goudemand, Antoine Rauch, Bénédicte Wibaut, Sabine Marie Castet, Dominique Desprez, Annie Harroche, Natalie Stieltjes, Annie Borel-Derlon, Marc Trossaërt, Amandine Celli, Benoît Guillet, Sophie Bayart, Marie-Anne Bertrand, Alexandra Fournel, Guillaume Mourey, Valérie Gay, Pierre Chamouni, Emmanuelle DE Raucourt, Birgit Frotscher, Michèle Martin, Mathieu Puyade, Brigitte Tardy, Stéphane Vanderbecken, Fabienne Genre-Volot, Philippe Nguyen, Benoît Polack, Caroline Oudot-Challard, Stéphane Girault, Annelise Voyer, Aurélien Lebreton, Abel Hassoun, Philippe Moreau, Pierre-Simon Rohrlich, Karine Baumstarck, Mohamed Boucekine, Vanessa Milien, Natacha Rosso, Clemence Tabele, Marie Viprey, Nicolas Giraud, Thomas Sannie, Hervé Chambost, and Noémie Resseguier
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Published: 2023
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5. Management of a High-Risk Surgery with Emicizumab and Factor VIII in a Child with a Severe Hemophilia A and Inhibitor

Author: Charles R. Lefèvre, Anaïs Jaffré, Adeline Pontis, Fabienne Nedelec-Gac, Pierre Guéret, Isabelle Gouin-Thibault, Bernard Fraisse, Sophie Bayart, and Benoit Guillet
Subjects: Diseases of the circulatory (Cardiovascular) system, RC666-701
Published: 2021
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6. Long term follow-up of pediatric-onset Evans syndrome: broad immunopathological manifestations and high treatment burden

Author: Thomas Pincez, Helder Fernandes, Thierry Leblanc, Gérard Michel, Vincent Barlogis, Yves Bertrand, Bénédicte Neven, Wadih Abou Chahla, Marlène Pasquet, Corinne Guitton, Aude Marie-Cardine, Isabelle Pellier, Corinne Armari-Alla, Joy Benadiba, Pascale Blouin, Eric Jeziorski, Frédéric Millot, Catherine Paillard, Caroline Thomas, Nathalie Cheikh, Sophie Bayart, Fanny Fouyssac, Christophe Piguet, Marianna Deparis, Claire Briandet, Eric Dore, Capucine Picard, Frédéric Rieux-Laucat, Judith Landman-Parker, Guy Leverger, and Nathalie Aladjidi
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Abstract: Pediatric-onset Evans syndrome (pES) is defined by both immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) before the age of 18 years. There have been no comprehensive long-term studies of this rare disease, which can be associated to various immunopathological manifestations (IM). We report outcomes of the 151 patients with pES and more than 5 years of follow-up from the nationwide French prospective OBS’CEREVANCE cohort. Median age at final follow-up was 18.5 years (range, 6.8–50.0 years) and the median follow-up period was 11.3 years (range, 5.1–38.0 years). At 10 years, ITP and AIHA were in sustained complete remission in 54.5% and 78.4% of patients, respectively. The frequency and number of clinical and biological IM increased with age: at the age of 20 years, 74% had at least one clinical IM (cIM). A wide range of cIM occurred, mainly lymphoproliferation, dermatological, gastrointestinal/hepatic and pneumological IM. The number of cIM was associated with a subsequent increase in the number of second-line treatments received (other than steroids and immunoglobulins; hazard ratio 1.4, 95% Confidence Interval: 1.15–1.60, P=0.0002, Cox proportional hazards method). Survival at 15 years after diagnosis was 84%. Death occurred at a median age of 18 years (range, 1.7–31.5 years), and the most frequent cause was infection. The number of second-line treatments and severe/recurrent infections were independently associated with mortality. In conclusion, long-term outcomes of pES showed remission of cytopenias but frequent IM linked to high second-line treatment burden. Mortality was associated to drugs and/or underlying immunodeficiencies, and adolescents-young adults are a high-risk subgroup.
Published: 2021
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7. Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

Author: Sara Orsini, Patrizia Noris, Loredana Bury, Paula G. Heller, Cristina Santoro, Rezan A. Kadir, Nora C. Butta, Emanuela Falcinelli, Ana Rosa Cid, Fabrizio Fabris, Marc Fouassier, Koji Miyazaki, Maria Luisa Lozano, Pamela Zúñiga, Claire Flaujac, Gian Marco Podda, Nuria Bermejo, Remi Favier, Yvonne Henskens, Emmanuel De Maistre, Erica De Candia, Andrew D. Mumford, Gul Nihal Ozdemir, Ibrahim Eker, Paquita Nurden, Sophie Bayart, Michele P. Lambert, James Bussel, Barbara Zieger, Alberto Tosetto, Federica Melazzini, Ana C. Glembotsky, Alessandro Pecci, Marco Cattaneo, Nicole Schlegel, and Paolo Gresele
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Abstract: Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders. We performed a worldwide, multicentric, retrospective study to assess the bleeding complications of surgery, the preventive and therapeutic approaches adopted, and their efficacy in patients with inherited platelet disorders: the Surgery in Platelet disorders And Therapeutic Approach (SPATA) study. We rated the outcome of 829 surgical procedures carried out in 423 patients with well-defined forms of inherited platelet disorders: 238 inherited platelet function disorders and 185 inherited platelet number disorders. Frequency of surgical bleeding was high in patients with inherited platelet disorders (19.7%), with a significantly higher bleeding incidence in inherited platelet function disorders (24.8%) than in inherited platelet number disorders (13.4%). The frequency of bleeding varied according to the type of inherited platelet disorder, with biallelic Bernard Soulier syndrome having the highest occurrence (44.4%). Frequency of bleeding was predicted by a pre-operative World Health Organization bleeding score of 2 or higher. Some types of surgery were associated with a higher bleeding incidence, like cardiovascular and urological surgery. The use of pre-operative pro-hemostatic treatments was associated with a lower bleeding frequency in patients with inherited platelet function disorders but not in inherited platelet number disorders. Desmopressin, alone or with antifibrinolytic agents, was the preventive treatment associated with the lowest bleedings. Platelet transfusions were used more frequently in patients at higher bleeding risk. Surgical bleeding risk in inherited platelet disorders is substantial, especially in inherited platelet function disorders, and bleeding history, type of disorder, type of surgery and female sex are associated with higher bleeding frequency. Prophylactic pre-operative pro-hemostatic treatments appear to be required and are associated with a lower bleeding incidence.
Published: 2017
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8. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Author: Patrizia Noris, Nicole Schlegel, Catherine Klersy, Paula G. Heller, Elisa Civaschi, Nuria Pujol-Moix, Fabrizio Fabris, Remi Favier, Paolo Gresele, Véronique Latger-Cannard, Adam Cuker, Paquita Nurden, Andreas Greinacher, Marco Cattaneo, Erica De Candia, Alessandro Pecci, Marie-Françoise Hurtaud-Roux, Ana C. Glembotsky, Eduardo Muñiz-Diaz, Maria Luigia Randi, Nathalie Trillot, Loredana Bury, Thomas Lecompte, Caterina Marconi, Anna Savoia, Carlo L. Balduini, Sophie Bayart, Anne Bauters, Schéhérazade Benabdallah-Guedira, Françoise Boehlen, Jeanne-Yvonne Borg, Roberta Bottega, James Bussel, Daniela De Rocco, Emmanuel de Maistre, Michela Faleschini, Emanuela Falcinelli, Silvia Ferrari, Alina Ferster, Tiziana Fierro, Dominique Fleury, Pierre Fontana, Chloé James, Francois Lanza, Véronique Le Cam Duchez, Giuseppe Loffredo, Pamela Magini, Dominique Martin-Coignard, Fanny Menard, Sandra Mercier, Annamaria Mezzasoma, Pietro Minuz, Ilaria Nichele, Lucia D. Notarangelo, Tommaso Pippucci, Gian Marco Podda, Catherine Pouymayou, Agnes Rigouzzo, Bruno Royer, Pierre Sie, Virginie Siguret, Catherine Trichet, Alessandra Tucci, Béatrice Saposnik, and Dino Veneri
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Abstract: Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack of consistent information in the literature. To advance knowledge on this matter, we performed a multicentric, retrospective study evaluating 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Neither the degree of thrombocytopenia nor the severity of bleeding tendency worsened during pregnancy and the course of pregnancy did not differ from that of healthy subjects in terms of miscarriages, fetal bleeding and pre-term births. The degree of thrombocytopenia in the babies was similar to that in the mother. Only 7 of 156 affected newborns had delivery-related bleeding, but 2 of them died of cerebral hemorrhage. The frequency of delivery-related maternal bleeding ranged from 6.8% to 14.2% depending on the definition of abnormal blood loss, suggesting that the risk of abnormal blood loss was increased with respect to the general population. However, no mother died or had to undergo hysterectomy to arrest bleeding. The search for parameters predicting delivery-related bleeding in the mother suggested that hemorrhages requiring blood transfusion were more frequent in women with history of severe bleedings before pregnancy and with platelet count at delivery below 50 × 109/L.
Published: 2014
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9. Impact of age at diagnosis, sex, and immunopathological manifestations in 886 patients with pediatric chronic immune thrombocytopenia

Author: Thomas Pincez, Helder Fernandes, Marlène Pasquet, Wadih Abou Chahla, Jérome Granel, Sébastien Héritier, Mony Fahd, Stéphane Ducassou, Caroline Thomas, Nathalie Garnier, Vincent Barlogis, Eric Jeziorski, Sophie Bayart, Pascal Chastagner, Nathalie Cheikh, Corinne Guitton, Catherine Paillard, Julien Lejeune, Frédéric Millot, Valérie Li‐Thiao Te, Coralie Mallebranche, Isabelle Pellier, Bénédicte Neven, Corinne Armari‐Alla, Liana Carausu, Christophe Piguet, Joy Benadiba, Claire Pluchart, Jean‐Louis Stephan, Marianna Deparis, Claire Briandet, Eric Doré, Aude Marie‐Cardine, Thierry Leblanc, Guy Leverger, and Nathalie Aladjidi
Subjects: Hematology
Published: 2023

10. Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha <scp> ( GP1BA ) </scp> and glycoprotein Ib platelet subunit beta ( <scp> GP1BB ) </scp> genes responsible for constitutional thrombocytopenia

Author: Fatema Dib, Agnès Quéméner, Sophie Bayart, Pierre Boisseau, Antoine Babuty, Marc Trossaërt, Marianne Sigaud, Catherine Ternisien, Nicolas Drillaud, Marion Eveillard, Benoit Guillet, Marie C. Béné, and Marc Fouassier
Subjects: Hematology
Published: 2022

11. Determinants of long-term outcomes of splenectomy in pediatric autoimmune cytopenias

Author: Thomas Pincez, Nathalie Aladjidi, Sébastien Héritier, Nathalie Garnier, Mony Fahd, Wadih Abou Chahla, Helder Fernandes, Claire Dichamp, Stéphane Ducassou, Marlène Pasquet, Sophie Bayart, Despina Moshous, Nathalie Cheikh, Catherine Paillard, Dominique Plantaz, Eric Jeziorski, Caroline Thomas, Corinne Guitton, Marianna Deparis, Aude Marie Cardine, Jean-Louis Stephan, Isabelle Pellier, Eric Doré, Joy Benadiba, Claire Pluchart, Claire Briandet, Vincent Barlogis, Guy Leverger, and Thierry Leblanc
Subjects: Cohort Studies, Immunology, Splenectomy, Humans, Anemia, Hemolytic, Autoimmune, Cell Biology, Hematology, Child, Thrombocytopenia, Biochemistry
Abstract: Splenectomy is effective in ∼70% to 80% of pediatric chronic immune thrombocytopenia (cITP) cases, and few data exist about it in autoimmune hemolytic anemia (AIHA) and Evans syndrome (ES). Because of the irreversibility of the procedure and the lack of predictions regarding long-term outcomes, the decision to undertake splenectomy is difficult in children. We report here factors associated with splenectomy outcomes from the OBS’CEREVANCE cohort, which prospectively includes French children with autoimmune cytopenia (AIC) since 2004. The primary outcome was failure-free survival (FFS), defined as the time from splenectomy to the initiation of a second-line treatment (other than steroids and intravenous immunoglobulins) or death. We included 161 patients (cITP, n = 120; AIHA, n = 19; ES, n = 22) with a median (minimum-maximum) follow-up of 6.8 years (1.0-33.3) after splenectomy. AIC subtype was not associated with FFS. We found that immunopathological manifestations (IMs) were strongly associated with unfavorable outcomes. Diagnosis of an IM before splenectomy was associated with a lower FFS (hazard ratio [HR], 0.39; 95% confidence interval [CI], 0.21-0.72, P = .003, adjusted for AIC subtype). Diagnosis of an IM at any timepoint during follow-up was associated with an even lower FFS (HR, 0.22; 95% CI, 0.12-0.39; P = 2.8 × 10−7, adjusted for AIC subtype) as well as with higher risk of recurrent or severe bacterial infections and thrombosis. In conclusion, our results support the search for associated IMs when considering a splenectomy to refine the risk-benefit ratio. After the procedure, monitoring IMs helps to identify patients with higher risk of unfavorable outcomes.
Published: 2022

12. β‐Thalassemia in childhood: Current state of health in a high‐income country.

Author: Donze, Caroline, Benoit, Audrey, Thuret, Isabelle, Faust, Cindy, Gauthier, Alexandra, Berbis, Julie, Badens, Catherine, Brousse, Valentine, Kokou‐Placide, Agbo‐Kpati, Slimane, Allali, Sophie, Bayart, Marie, Belloy, Malika, Benkerrou, Claire, Berger, Yves, Bertrand, Jacinthe, Bonneau, Jean‐François, Brasme, Valentine, Brousse, Marie‐Pierre, Castex, and Colette, Chalem
Subjects: STEM cell transplantation, HIGH-income countries, HEMATOPOIETIC stem cells, CHILD patients, IRON overload, PATIENT monitoring
Abstract: Summary: β‐thalassemia is an haemoglobinopathy characterized by a defective synthesis of the β‐globin chain. To assess the current state of health of paediatric patients with β‐thalassemia, data from the French national registry regarding children born between 2005 and 2020 with β‐thalassemia intermedia (TI) or major (TM) were collected. A total of 237 patients (median age 7.1 years at last visit) were analysed, of whom 156 (65.8%) were born in France and 162 (68.4%) had a TM phenotype. The probability of survival for children with TM born in France was 98.3% at 15 years. Fifty‐four (22.8%) children received a haematopoietic stem cell transplant with a success rate of 88.8%. Hepatic and cardiac iron overload monitoring in non‐transplanted patients showed moderate overload in 15.7% (18/115) and 7.1% (7/99) of cases, respectively, while clinical complications were found in only 4 patients with TM (hepatic in 3 cases). At last visit, mean ferritinemia was 1293 ng/ml (±759). Overall, less than 10% of children underwent splenectomy. No significant impact of the disease on growth or academic achievement was observed. Deferasirox was the main first‐line chelator, prescribed in 78.2% of cases, with side effects reported in 11.7% of instances. [ABSTRACT FROM AUTHOR]
Published: 2023
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13. The Hemarthrosis-Simulating Knee Model: A Useful Tool for Individualized Education in Patients with Hemophilia (GEFACET Study)

Author: Nathalie Grinda, Francoise Truong-Berthoz, Edita Dolimier, Emmanuelle Ferré, Birgit Frotscher, Emmanuelle de Raucourt, Valerie Roussel-Robert, Sophie Bayart, Sandrine Meunier, Sophie le Doré, and Pierre Chamouni
Subjects: medicine.medical_specialty, hemarthrosis, patient education as topic, Disease, 030204 cardiovascular system & hematology, Therapeutic education, Artificial knee, Journal of Blood Medicine, knee joint, 03 medical and health sciences, 0302 clinical medicine, Informed consent, hemophilia, Medicine, In patient, Major complication, Original Research, business.industry, Hematology, therapeutic education, Hemarthrosis, medicine.disease, 030220 oncology & carcinogenesis, Physical therapy, Observational study, business
Abstract: Sophie le Doré,1 Nathalie Grinda,2 Emmanuelle Ferré,1 Valerie Roussel-Robert,3 Birgit Frotscher,4 Pierre Chamouni,5 Sandrine Meunier,6 Sophie Bayart,7 Edita Dolimier,8 Francoise Truong-Berthoz,9 Emmanuelle de Raucourt1 1Haemophilia Treatment Centre, Hôpital Mignot, Versailles, France; 2Regional Hemophilia Centre, Hôpital de Bicêtre (AP-HP), Kremlin-Bicêtre, France; 3Regional Hemophilia Treatment, Hôpital Cochin (AP-HP) Centre, Paris, France; 4Haemophilia Treatment Centre, Hôpital de Brabois, Vandoeuvre-Les-Nancy, France; 5Regional Hemophilia Treatment Centre, Centre Hospitalier Universitaire de Rouen, Rouen, France; 6Hospices Civils de Lyon – Unité d’Hémostase Clinique, Hôpital Cardiologique Louis Pradel, Bron, France; 7Haemophilia Treatment Centre, Hôpital Pontchaillou, Centre Hospitalier Universitaire de Rennes, Rennes, France; 8Baxalta France SAS, a Takeda Company, Paris, France; 9Baxalta GmbH, a Takeda Company, Zurich, SwitzerlandCorrespondence: Emmanuelle de RaucourtService d’Hématologie Biologique, Clinique des Anticoagulants (CAC), Unité Inserm U 1148, Hôpital Beaujon, Clichy, FranceTel +33 01 40 87 55 41Fax +33 01 40 87 56 83Email emmanuelle.de-raucourt@aphp.frBackground: Hemophilic arthropathy is a major complication in patients with severe hemophilia. A plastic knee model has been developed for the therapeutic education of patients to promote improved care management and self-treatment skills. The objective of this study was to evaluate the impact of this hemarthrosis-simulating artificial knee (HSAK) on patients’ knowledge of their disease and its treatment.Methods: In this observational study, the impact of HSAK was assessed during individualized education in patients with severe/moderately severe hemophilia A or B at seven hemophilia treatment centers in France. Participants provided written informed consent and completed questionnaires to assess knowledge of their disease (score range: 0– 7) and knowledge of their treatment (score range: 0– 4). Questionnaires were completed before, immediately after and 6 months after HSAK use. The scores obtained before and after the use of the HSAK were compared.Results: The participants comprised 32 children, 29 teenagers, and 31 adults. The mean (SD) disease knowledge score increased significantly in all age groups of patients from 4.5 (2.0) to 5.9 (1.5; p< 0.001) immediately after the training and remained unchanged at 6 months. Mean (SD) treatment knowledge scores were unchanged, but Wilcoxon signed rank testing showed a significant increase after the training course that was maintained at 6 months in children and teenagers.Conclusion: These findings suggest that an individualized training course can enhance the understanding of hemophilia in patients of all ages, especially in children and teenagers, and that the HSAK may assist in improving patients’ management of their disease.Keywords: hemarthrosis, hemophilia, knee joint, patient education as topic, therapeutic education
Published: 2021

14. Management of a High-Risk Surgery with Emicizumab and Factor VIII in a Child with a Severe Hemophilia A and Inhibitor

Author: Sophie Bayart, Fabienne Nedelec-Gac, Isabelle Gouin-Thibault, Adeline Pontis, Benoît Guillet, Charles R. Lefèvre, Bernard Fraisse, Anaïs Jaffré, Pierre Gueret, Institut de recherche en santé, environnement et travail (Irset), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), École des Hautes Études en Santé Publique [EHESP] (EHESP), CHU Pontchaillou [Rennes], Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Chard-Hutchinson, Xavier
Subjects: [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, Pediatrics, medicine.medical_specialty, Letter to the editor, [SDV.MHEP.CHI] Life Sciences [q-bio]/Human health and pathology/Surgery, MEDLINE, [SDV.MHEP.CHI]Life Sciences [q-bio]/Human health and pathology/Surgery, 030204 cardiovascular system & hematology, Severe hemophilia A, 03 medical and health sciences, [SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics, 0302 clinical medicine, Text mining, hemic and lymphatic diseases, Diseases of the circulatory (Cardiovascular) system, Medicine, Letter to the Editor, Emicizumab, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, 3. Good health, [SDV.SP.PHARMA] Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, RC666-701, 030220 oncology & carcinogenesis, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, business
Abstract: International audience; The recent development of a humanized, bi-specific, and monoclonal antibody mimicking the function of activated factor VIII was a revolution in the management of patients suffering from severe hemophilia A with inhibitors. The phase III randomized studies have shown a more efficient prophylaxis of this subcutaneous administered drug in these patients compared with recombinant FVIIa (rFVIIa) and activated prothrombin complex concentrates (aPCC). Nonetheless, there are “real life” matters that need to be explored in this new era of managing hemophilia patients, such as surgery management under emicizumab, especially in children. Here, we report the first case, to our knowledge, of major orthopedic surgery managed with factor VIII infusions in a child with inhibitor receiving emicizumab.
Published: 2021

15. A Glanzmann thrombasthenia family associated with a TUBB1‐related macrothrombocytopenia

Author: Alan T. Nurden, Benoît Guillet, Jacques Caen, Xavier Pillois, Sophie Bayart, Paquita Nurden, CHU Pontchaillou [Rennes], École des Hautes Études en Santé Publique [EHESP] (EHESP), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Biologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Académie nationale de médecine, Centre de Traitement des Maladies Hémorragiques [CHU Rennes], Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Rhythmologie et de Modélisation Cardiaque [Bordeaux] (Plateforme Technologique d’Innovation Biomédicale), Hôpital Xavier Arnozan - CHU de Bordeaux, and Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
Subjects: [SDV]Life Sciences [q-bio], thrombocytopenia, membrane glycoproteins, 030204 cardiovascular system & hematology, Gene mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Gene expression, Medicine, Platelet, Gene, Sanger sequencing, business.industry, Glanzmann thrombasthenia, Oligogenic Inheritance, Hematology, Phenotype, 3. Good health, Immunology, gene expression, symbols, β-tubulin, Complication, business
Abstract: International audience; Background - Macrothrombocytopenia (MTP) is a rare but enigmatic complication of Glanzmann thrombasthenia (GT), an inherited bleeding disorder caused by the absence of platelet aggregation due to deficiencies of the αIIbβ3 integrin. Objectives - We report a family with type I GT and a prolonged bleeding time but unusually associated with congenital mild thrombocytopenia and platelet size heterogeneity with giant forms. Methods and results - Sanger sequencing of DNA from the propositus identified 2 heterozygous ITGB3 gene mutations: p.P189S and p.C210S both of which prevent αIIbβ3 expression and are causative of GT but without explaining the presence of enlarged platelets. High-throughput screening led to the detection of a predicted disease-causing heterozygous mutation in the TUBB1 gene: p.G146R, encoding β1-tubulin, a component of the platelet cytoskeleton and a gene where mutations are a known cause of MTP. Conclusions - Family screening confirmed that this rare phenotype results from oligogenic inheritance while suggesting that the GT phenotype dominates clinically.
Published: 2019

16. An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years

Author: Mickaël Alligon, Nizar Mahlaoui, Virginie Courteille, Laurence Costes, Veronica Afonso, Philippe Randrianomenjanahary, Nathalie de Vergnes, Anja Ranohavimparany, Duy Vo, Inès Hafsa, Perrine Bach, Vincent Benoit, Nicolas Garcelon, Alain Fischer, Wadih Abou-Chahla, Daniel Adoue, Nathalie Aladjidi, Corinne Armari-Alla, Vincent Barlogis, Sophie Bayart, Yves Bertrand, Stéphane Blanche, Damien Bodet, Bernard Bonnotte, Raphaël Borie, Patrick Boutard, David Boutboul, Claire Briandet, Jean-Paul Brion, Jacques Brouard, Liana Carausu, Martin Castelle, Pascal Cathebras, Emilie Catherinot, Nathalie Cheikh, Morgane Cheminant, Sarah Cohen-Beaussant, Thibault Comont, Louis-Jean Couderc, Pierre Cougoul, Gérard Couillault, Lionel Crevon, Elisa Demonchy, Anne Deville, Catherine Devoldere, Eric Dore, Fabienne Dulieu, Isabelle Durieu, Natacha Entz-Werle, Claire Fieschi, Fanny Fouyssac, Pierre Frange, Vincent Gajdos, Lionel Galicier, Virginie Gandemer, Martine Gardembas, Catherine Gaud, Bernard Grosbois, Aurélien Guffroy, Corinne Guitton, Gaëlle Guillerm, Eric Hachulla, Mohamed Hamidou, Sophie Haro, Yves Hatchuel, Olivier Hermine, Cyrille Hoarau, Arnaud Hot, Sébastien Humbert, Arnaud Jaccard, Jean-Philippe Jais, Sarah Jannier, Serge Jacquot, Roland Jaussaud, Pierre-Yves Jeandel, Eric Jeziorski, Kamila Kebaili, Anne-Sophie Korganow, Olivier Lambotte, Fanny Lanternier, Claire Larroche, David Launay, Emmanuelle Le Moigne, Alain Le Quellec, Vincent Le Moing, Yvon Lebranchu, Marc Lecuit, Guillaume Lefèvre, Jean-Daniel Lelièvre, Richard Lemal, Valérie Li-Thiao-Te, Olivier Lortholary, Luminita Luca, Coralie Mallebranche, Marion Malphettes, Aude Marie-Cardine, Nicolas Martin-Silva, Agathe Masseau, Françoise Mazingue, Etienne Merlin, Gérard Michel, Frédéric Millot, Charline Miot, Béatrice Monlibert, Fabrice Monpoux, Despina Moshous, Luc Mouthon, Martine Münzer, Robert Navarro, Bénédicte Neven, Dalila Nouar, Raphaële Nove-Josserand, Eric Oksenhendler, Marie Ouachée-Chardin, Anne Pagnier, Marlène Pasquet, Isabelle Pellier, Yves Perel, Antoinette Perlat, Christophe Piguet, Dominique Plantaz, Sophie Rivière, Pascal Roblot, Pierre-Simon Rohrlich, Bruno Royer, Valéry Salle, Françoise Sarrot-Reynauld, Amélie Servettaz, Jean-Louis Stephan, Nicolas Schleinitz, Harry Sokol, Felipe Suarez, Laure Swiader, Sophie Taque, Caroline Thomas, Olivier Tournilhac, Caroline Thumerelle, Jean-Pierre Vannier, and Jean-François Viallard
Subjects: Inflammation, Neoplasms, Immunology, Hypersensitivity, Immunologic Deficiency Syndromes, Immunology and Allergy, Humans, Autoimmunity, Retrospective Studies
Abstract: Noninfectious manifestations-allergy, autoimmunity/inflammation, lymphoproliferation, and malignancies-are known to exist in many primary immunodeficiency diseases (PID) and to participate in prognosis.To obtain a global view on their occurrence, we retrieved data from a retrospective cohort of 1375 patients included in the French National Reference Center for Primary Immune Deficiencies (CEREDIH) for whom we had a 10-year follow-up since inclusion in the registry.These patients were followed for 10 years (2009-2018) by specialized centers in university hospitals. This study showed that 20.1% of patients without prior curative therapy (n = 1163) developed at least 1 manifestation (event) encompassing 277 events.Autoimmune/inflammatory events (n = 138) and malignancies (n = 85) affected all age classes and virtually all PID diagnostic groups. They were associated with a risk of death that occurred in 195 patients (14.2%) and were found to be causal in 43% of cases. Malignancies (odds ratio, 5.62; 95% confidence interval, 3.66-8.62) and autoimmunity (odds ratio, 1.9; 95% confidence interval, 1.27-2.84) were clearly identified as risk factors for lethality. Patients who underwent curative therapy (mostly allogeneic hematopoietic stem cell transplantation, with a few cases of gene therapy or thymus transplantation) before the 10-year study period (n = 212) had comparatively reduced but still detectable clinical manifestations (n = 16) leading to death in 9.4% of them.This study points to the frequency and severity of noninfectious manifestations in various PID groups across all age groups. These results warrant further prospective analysis to better assess their consequences and to adapt therapy, notably indication of curative therapy.
Published: 2021

17. Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort

Author: Guy Leverger, Marie-Amelyne Le Rouzic, Christian Rose, Laila Hessissen, Nadja Jäkel, Bertrand Isidor, Stéphane Ducassou, Patrick Lutz, Sophie Bayart, Cyrielle Fouquet, Mony Fahd, Emmanuelle Bourrat, Marlène Pasquet, Fanny Fouyssac, Mohamed Touati, Isabelle Thuret, Thierry Leblanc, Christiane Vermylen, Ralf Knoefler, Sandrine Marlin, Thomas Matthes, Valerie Triolo, Emmanuel Raffoux, Jean-Pierre Vannier, and Caroline Kannengiesser
Subjects: Male, medicine.medical_specialty, genotype phenotype correlation, Mitochondrial Membrane Transport Proteins, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Diabetes mellitus, Internal medicine, Genotype, medicine, Humans, congenital sideroblastic anaemia, Child, Genetic Association Studies, Immunodeficiency, Retrospective Studies, ddc:616, Thrombocytosis, business.industry, Genetic Diseases, X-Linked, Hematology, medicine.disease, Nucleotidyltransferases, Phenotype, Anemia, Sideroblastic, Europe, iron overload, 030220 oncology & carcinogenesis, Mutation, Cohort, Female, business, 5-Aminolevulinate Synthetase, 030215 immunology, Rare disease
Abstract: Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort of childhood-onset CSA patients to explore genotype/phenotype correlations. We studied 23 females and 20 males with symptoms of CSA. Among the patients, the most frequently mutated genes were ALAS2 (n = 10; 23·3%) and SLC25A38 (n = 8; 18·6%), causing isolated forms of microcytic anaemia of varying severity. Five patients with SLC19A2 mutations suffered from thiamine-responsive megaloblastic anaemia and three exhibited the 'anaemia, deafness and diabetes' triad. Three patients with TRNT1 mutations exhibited severe early onset microcytic anaemia associated with thrombocytosis, and two exhibited B-cell immunodeficiency, inflammatory syndrome and psychomotor delay. The prognoses of patients with TRNT1 and SLC2A38 mutations were generally dismal because of comorbidities or severe iron overload. No molecular diagnosis could be established in 14/43 cases. This study emphasizes the frequency of ALAS2 and SLC25A38 mutations and provides the largest comprehensive analysis to date of genotype/phenotype correlations in CSA. Further studies of CSA patients with data recorded in an international registry would be helpful to improve patient management and establish standardized guidelines.
Published: 2019

18. FranceCoag: a 22-year prospective follow-up of the national French cohort of patients with inherited bleeding disorders

Author: Alexandra, Doncarli, Virginie, Demiguel, Irina, Guseva Canu, Véronique, Goulet, Sophie, Bayart, Thierry, Calvez, Sabine, Castet, Vincent, Dalibard, Yohan, Demay, Birgit, Frotscher, Jenny, Goudemand, Thierry, Lambert, Vanessa, Milien, Caroline, Oudot, Thomas, Sannié, Hervé, Chambost, B, Wibaut, Laboratoire d'épidémiologie (IRSN), Institut de Radioprotection et de Sûreté Nucléaire (IRSN), Infectious Disease Department [Saint Maurice], Agence Nationale de la Santé Publique [Saint-Maurice] (ANSP), Hématogoie pédiatrique, hôpital Sud, Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d’Hématologie Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Hôpital cardiologique, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre d'Etudes Fiscales et Financières (CEFF), Aix Marseille Université (AMU), Service de Pédiatrie médicale - Spécialités médicales [CHU Limoges], CHU Limoges, Association française des hémophiles (AFH), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital de la Timone [CHU - APHM] (TIMONE), Service de pédiatrie, d'hématologie et d'oncologie [Hôpital de La Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Santé publique France Guyane, Santé publique France - French National Public Health Agency [Saint-Maurice, France], Institute for Work and Health (IST), and Lausanne
Subjects: Adult, Male, Haemophilia, Pediatrics, medicine.medical_specialty, Inhibitor, Adolescent, Epidemiology, [SDV]Life Sciences [q-bio], Haemophilia A, Population, Coagulation Protein Disorders, 030204 cardiovascular system & hematology, Hemophilia A, Hemophilia B, Young Adult, 03 medical and health sciences, Blood Coagulation Disorders, Inherited, 0302 clinical medicine, Rare inherited disease, medicine, Humans, Haemophilia B, Prospective Studies, 030212 general & internal medicine, Risk factor, Prospective cohort study, education, education.field_of_study, Prophylaxis, business.industry, Middle Aged, medicine.disease, 3. Good health, von Willebrand Diseases, Cohort, Female, France, business, Follow-Up Studies
Abstract: International audience; FranceCoag is an ongoing open prospective multicentre cohort project aimed at improving epidemiological knowledge about inherited bleeding disorders in France. The main objective of this article was to evaluate the project's progress as of the 30th December 2016. Between 1994 and this date, of the 10,047 patients included in the study, 384 (3.8%) were reported by clinicians to have died and 159 (1.6%) to be lost to follow-up. Among the remaining 9504 patients still being followed up, 5748 (60.5%) had haemophilia A, 1300 (13.7%) haemophilia B, 1980 (20.8%) von Willebrand Disease while 476 (5.0%) had another clotting factor deficiency (Factor I, II, V, combined V and VIII, VII, X, XI and XIII). The median age of the population was 32 years (Inter-quartile range (IQR) 18-50 years) at data extraction on December 30th, 2016. The subgroup of children (i.e.
Published: 2018

19. Prospective Evaluation of the First Option, Second-Line Therapy in Childhood Chronic Immune Thrombocytopenia: Splenectomy or Immunomodulation

Author: Rodolphe Thiébaut, Corinne Armari-Alla, Marlène Pasquet, Thierry Leblanc, Nathalie Aladjidi, Guy Leverger, Stéphane Ducassou, Wadih Abou Chahla, Hélène Savel, Corinne Guitton, Vincent Barlogis, Helder Fernandes, Isabelle Pellier, Gilles Vassal, Yves Bertrand, Caroline Thomas, Nathalie Cheikh, Salim Laghouati, Sophie Bayart, Djamel Kherfellah, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité d'Hémato-Immunologie pédiatrique [Hôpital Robert Debré, Paris], Service d'Immuno-hématologie pédiatrique [Hôpital Robert Debré, Paris], Hôpital Robert Debré-Hôpital Robert Debré, Unité de Soutien Méthodologique à la Recherche Clinique (USMR), CHU Bordeaux [Bordeaux], CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence National des Cytopénies Auto-immunes de l'Enfant (CEREVANCE), Institut d’Hématologie et d’Oncologie Pédiatriques, Hôpital Robert Debré, CHU Lille, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Grenoble, Hôpital Bicêtre, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Institut Gustave Roussy (IGR), Université Paris-Saclay, Statistics In System biology and Translational Medicine (SISTM), Inria Bordeaux - Sud-Ouest, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)- Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, medicine.medical_specialty, hydroxychloroquine, Adolescent, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Splenectomy, Azathioprine, Gastroenterology, Immunomodulation, 03 medical and health sciences, 0302 clinical medicine, rituximab, children, 030225 pediatrics, Internal medicine, medicine, Humans, Prospective Studies, 030212 general & internal medicine, Child, Prospective cohort study, ComputingMilieux_MISCELLANEOUS, Purpura, Thrombocytopenic, Idiopathic, azathioprine, business.industry, Autoimmune Cytopenia, Infant, Hydroxychloroquine, Immune thrombocytopenia, 3. Good health, Child, Preschool, Chronic Disease, Pediatrics, Perinatology and Child Health, Cohort, second-line treatment, Female, Rituximab, business, medicine.drug
Abstract: International audience; Objective: To describe 4 subgroups of pediatric patients treated with splenectomy, hydroxychloroquine, azathioprine, or rituximab as the first-option, second-line treatment for chronic immune thrombocytopenia.Study design: Selection of patients with chronic immune thrombocytopenia from the French national prospective cohort of pediatric autoimmune cytopenia OBS'CEREVANCE and VIGICAIRE study, treated by splenectomy, hydroxychloroquine, azathioprine, or rituximab as a first second-line treatment.Results: For 137 patients, treated between 1989 and 2016, the median follow-up after diagnosis and after treatment initiation was 8.5 (2.8-26.4) years and 4.7 (1.1-25.1) years, respectively. Median age at diagnosis and at initiation of treatment were 9 (0.7; 16) and 12 (2; 18.1) years, respectively without significant difference between subgroups. For the whole cohort, 24-month event-free survival was 62% (95% CI 55; 71). It was 85% (95% CI 77; 95) for the 56 patients treated with splenectomy, 60% (95% CI 44; 84) for the 23 patients treated with rituximab, 46% (95% CI 30; 71) for the 24 patients treated with azathioprine, and 37% (95% CI 24; 59) for the 34 patients treated with hydroxychloroquine (log-rank P < .0001). For the splenectomy subgroup, being older than 10 years at splenectomy tended to improve event-free survival (P = .05). Female teenagers with antinuclear antibody positivity benefited from hydroxychloroquine therapy.Conclusions: This national study, limiting pitfalls in the analysis of the effects of second-line therapies, showed that splenectomy remains the treatment associated with the better response at 24 months.
Published: 2020

20. Bleeding complications during pregnancy and delivery in haemophilia carriers and their neonates in Western France: An observational study

Author: Philippe Beurrier, Leela Raj, Karine Lacut, Vincent Cussac, Jérôme Potin, Benoît Guillet, Laurent Ardillon, Sophie Bayart, Valerie Horvais, Benjamin Gillet, Francis Couturaud, Alice Nau, Brigitte Pan-Petesch, Johann Rose, Marc Trossaert, Sophie Guillou, Laurent Macchi, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Le Mans (CH Le Mans), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Ischémie Reperfusion en Transplantation d’Organes Mécanismes et Innovations Thérapeutiques ( IRTOMIT), Université de Poitiers-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Brest (UBO), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Poitiers, Université d'Angers (UA)-Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
Subjects: Adult, medicine.medical_specialty, newborns, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Haemophilia A, Hemorrhage, haemophilia A, haemophilia B, 030204 cardiovascular system & hematology, Hemophilia A, Haemophilia, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Caesarean section, Haemophilia B, postpartum, Haemophilia carriers, Genetics (clinical), Pregnancy, business.industry, Obstetrics, Infant, Newborn, Hematology, General Medicine, medicine.disease, 3. Good health, Cohort, Female, France, pregnancy, business, Postpartum period, 030215 immunology, Cohort study
Abstract: International audience; Background: Pregnancy, delivery and the postpartum period expose haemophilia carriers, as well as their potentially affected neonates to a high risk of haemorrhagic complications.Objectives: To describe bleeding complications in haemophilia carriers and their newborns throughout pregnancy and postpartum and to identify potential factors increasing the risk of bleeding in this population.Patients/methods: The ECHANGE multicentre observational cohort study was conducted between January 2014 and February 2019 using the BERHLINGO database comprised of patients from seven French haemophilia centres.Results: During the 5 years study period, a total of 104 haemophilia carriers and 119 neonates were included, representing 124 pregnancies and 117 deliveries. Thirty-five (30%) bleeding events were observed, most of them (83%) occurred during the postpartum period, and 37% were reported during the secondary postpartum. Neuraxial anaesthesia was not complicated by spinal haematoma. Three (2.5%) neonates experienced cerebral bleeding. Caesarean section was associated with an increased risk of maternal bleeding in primary and secondary postpartum periods. Basal factor level
Published: 2020

21. Age at diagnosis is delayed in women/girls with haemophilia compared to men/boys: a FranceCoag report

Author: Marie, Viprey, Fabienne, Volot, Céline, Falaise, Guillaume, Mourey, Benjamin, Gillet, Yoann, Huguenin, Sandrine, Meunier, Noémie De, Gunzburg, Virginie, Barbay, Sophie, Bayart, Cécile, Bally, Marc, Trossaert, Ségolène, Claeyssens, Valérie, Gay, Anne-Lise, Voyer, Placide, Nyombe, Yves, Gruel, Aurélien, Lebreton, Yohan, Demay, Vanessa, Milien, Mohamed, Boucekine, Yannick, Collé, Hervé, Chambost, Roseline, d'Oiron, Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU), Assistance Publique - Hôpitaux de Marseille (APHM), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de chirurgie pédiatrique [CHU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), CHU Bordeaux [Bordeaux], Hospices Civils de Lyon (HCL), Service d’Hématologie et d’Oncologie, Centre Hospitalier de Versailles, Le Chesnay, France, CHU Rouen, Normandie Université (NU), Service de Pathologie [Rennes] = Pathology [Rennes], CHU Pontchaillou [Rennes], Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte [CHU Necker] (MaMEA Necker), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Métropole Savoie [Chambéry], CHU Amiens-Picardie, Hôpital de Saint-Denis, CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Clermont-Ferrand, Association française des hémophiles (AFH), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hémostase, Inflammation, Thrombose (HITH - U1176 Inserm - CHU Bicêtre), Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)-Université Paris-Saclay, World Federation of Hemophilia, CHU Toulouse [Toulouse], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Lucas, Nelly
Subjects: [SDV] Life Sciences [q-bio], [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, [SDV]Life Sciences [q-bio], [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2020

22. Br J Haematol

Author: Eric Jeziorski, Florence Viard, Helder Fernandes, Cécile Droz, S. Ducassou, Nathalie Aladjidi, Sophie Bayart, Fanny Fouyssac, Isabelle Pellier, Gérard Michel, Thierry Leblanc, Corinne Guitton, Marlène Pasquet, Anne Gourdonneau, Wadih Abouchallah, Liana Carausu, Guy Leverger, Yves Bertrand, Caroline Thomas, Nathalie Cheikh, CHU Bordeaux [Bordeaux], Centre de Référence National des Cytopénies Auto-immunes de l'Enfant (CEREVANCE), Université de Bordeaux (UB), Pathologies biliaires, fibrose et cancer du foie, Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier )-Université de Montpellier (UM), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Lille, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, Pediatrics, medicine.medical_specialty, Adolescent, Anti-nuclear antibody, medicine.medical_treatment, Splenectomy, Azathioprine, 03 medical and health sciences, 0302 clinical medicine, Adrenal Cortex Hormones, Humans, Medicine, Prospective Studies, Sex Distribution, Child, Prospective cohort study, Salvage Therapy, PharmacoEpi-Drugs, Purpura, Thrombocytopenic, Idiopathic, business.industry, Remission Induction, Immunoglobulins, Intravenous, Hydroxychloroquine, Hematology, medicine.disease, Combined Modality Therapy, Thrombocytopenic purpura, 3. Good health, Observational Studies as Topic, Treatment Outcome, Child, Preschool, 030220 oncology & carcinogenesis, Female, Rituximab, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, France, business, Immunosuppressive Agents, Follow-Up Studies, 030215 immunology, Rare disease, medicine.drug
Abstract: International audience; Childhood chronic immune thrombocytopenic purpura (cITP) is a rare disease. In severe cases, there is no evidence for the optimal therapeutic strategy. Our aim was to describe the real‐life management of non‐selected children with cITP at diagnosis. Since 2004, patients less than 18 years old with cITP have been enrolled in the national prospective cohort, OBS’CEREVANCE. From 1990 to 2014, in 29 centres, 392 children were diagnosed with cITP. With a median follow‐up of six years (2·0–25), 45% did not need second‐line therapy, and 55% (n = 217) received one or more second lines, mainly splenectomy (n = 108), hydroxychloroquine (n = 61), rituximab (n = 61) or azathioprine (n = 40). The overall five‐year further second‐line treatment‐free survival was 56% [95% CI 49·5–64.1]. The use of splenectomy significantly decreased over time. Hydroxychloroquine was administered to children with positive antinuclear antibodies, more frequently older and girls, and reached 55% efficacy. None of the patients died. Ten years after the initial diagnosis, 55% of the 56 followed children had achieved complete remission. Children with cITP do not need second‐line treatments in 45% of cases. Basing the treatment decision on the pathophysiological pathways is challenging, as illustrated by ITP patients with positive antinuclear antibodies treated with hydroxychloroquine.
Published: 2020

23. Compliance with Early Long-Term Prophylaxis Guidelines for Severe Hemophilia A

Author: Paul Saultier, Yves Guillaume, Virginie Demiguel, Claire Berger, Annie Borel-Derlon, Ségolène Claeyssens, Annie Harroche, Caroline Oudot, Anne Rafowicz, Marc Trossaert, Bénédicte Wibaut, Christine Vinciguerra, Mohamed Boucekine, Karine Baumstarck, Sandrine Meunier, Thierry Calvez, Hervé Chambost, Achille Aouba, Faezeh Legrand, Chantal Rothschild, Marie-Françoise Torchet, Roseline d’Oiron, Thierry Lambert, Yves Laurian, Jennifer Biernat, Jenny Goudemand, Armelle Parquet, Véronique Tintillier, Anne Durin Assollant, Claude Négrier, Sabine Castet, Viviane Guérin, Yohann Huguenin, Marguerite Micheau, Anne Ryman, Hérve Chambost, Céline Falaise, Marie Françoise Thiercelin-Legrand, Marianne Fiks-Sigaud, Marc Fouassier, Edith Fressinaud, Sophie Voisin, Albert Faradji, Patrick Lutz, Marie Elisabeth Briquel, Birgit Frotscher, Béatrice Fimbel, Yves Gruel, Claude Guerois, Sandra Regina, Jean Baptiste Valentin, Christine Biron Andreani, Philippe Codine, Daniel Donadio, Robert Navarro, Paola Rospide, Jean-François Schved, Bénédicte Collet, Annie Borel Derlon, Philippe Gautier, Sophie Bayart, Ben⊚ıt Guillet, JeanneYvonne Borg, Cécile Dumesnil, Charline Normand, Pascale Schneider, Philippe Tron, Jean-Pierre Vannier, Fabienne Dutrillaux, Fabienne Volot, Piotr Gembara, Alain Marques-Verdier, Dalila Adjaoud, Claire Barro, Gilles Pernod, Ben⊚ıt Polack, Patricia Pouzol, Nadra Ounnoughene, Patricia Paugy, Valérie Robert, Natalie Stieltjes, Brigitte Bastenaire, Emmanuelle de Raucourt, Jocelyne Peynet, Valérie Li-Thiao-Te, Brigitte Pautard, Catherine Behar, Stéphanie Gorde, Martine Munzer, Valérie Gay, Elisabeth Benz Lemoine, Laurent Macchi, Lionel De Lumley, Solange Gaillard, Anne Deville, Fabrice Monpoux, Marie Anne Bertrand, Brigitte Pan-Petesch, Abel Hassoun, Brigitte Coatmelec, Philippe Beurrier, Michèle Damay, Philippe Moreau, Odile Pouille-Lievin, Caroline Schoepfer, Eliane Tarral, Monique Bianchin, Joël Nguyen, Olivier Pincemaille, Marie-Odile Peter, Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital de la Timone [CHU - APHM] (TIMONE), Assistance Publique - Hôpitaux de Marseille (APHM), Hôpitaux de Saint Maurice (HNSM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Centre Universitaire des Maladies Rénales [CHU Caen] (CUMR Caen), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Limoges, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hospices Civils de Lyon (HCL), Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Université de Montpellier (UM)
Subjects: Male, Pediatrics, medicine.medical_specialty, Multivariate analysis, [SDV]Life Sciences [q-bio], Population, Long term prophylaxis, Kaplan-Meier Estimate, Hemophilia A, Severe hemophilia A, Severity of Illness Index, Early initiation, Drug Administration Schedule, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Humans, Medicine, Cumulative incidence, 030212 general & internal medicine, Practice Patterns, Physicians', education, Birth Year, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, education.field_of_study, business.industry, Infant, Newborn, Infant, Blood Coagulation Factors, Logistic Models, Child, Preschool, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Cohort, France, Guideline Adherence, Joint Diseases, business
Abstract: International audience; Objectives: To evaluate the applicability and compliance with guidelines for early initiation of long-term prophylaxis in infants with severe hemophilia A and to identify factors associated with guideline compliance.Study design: This real-world, prospective, multicenter, population-based FranceCoag study included almost all French boys with severe hemophilia A, born between 2000 and 2009 (ie, after guideline implementation).Results: We included 333 boys in the study cohort. The cumulative incidence of long-term prophylaxis use was 61.2% at 3 years of age vs 9.5% in a historical cohort of 39 boys born in 1996 (ie, before guideline implementation). The guidelines were not applicable in 23.1% of patients due to an early intracranial bleeding or inhibitor development. Long-term prophylaxis was delayed in 10.8% of patients. In the multivariate analysis, 2 variables were significantly associated with "timely long-term prophylaxis" as compared with "delayed long-term prophylaxis": hemophilia treating center location in the southern regions of France (OR 23.6, 95% CI 1.9-286.7, P = .013 vs Paris area) and older age at long-term prophylaxis indication (OR 7.2 for each additional year, 95% CI 1.2-43.2, P = .031). Long-term prophylaxis anticipation was observed in 39.0% of patients. Earlier birth year (OR 0.5, 95% CI 0.3-0.8, P = .010 for birth years 2005-2009 vs 2000-2004) and age at first factor replacement (OR 1.9 for each additional year, 95% CI 1.2-3.0, P = .005) were significantly associated with "long-term prophylaxis guideline compliance" vs "long-term prophylaxis anticipation."Conclusions: This study suggests that long-term prophylaxis guidelines are associated with increased long-term prophylaxis use. However, early initiation of long-term prophylaxis remains a challenge.
Published: 2021

24. Risk of autoimmune diseases and human papilloma virus (HPV) vaccines: Six years of case-referent surveillance

Author: Lamiae Grimaldi-Bensouda, Michel Rossignol, Isabelle Koné-Paut, Alain Krivitzky, Christine Lebrun-Frenay, Johanna Clet, David Brassat, Caroline Papeix, Marc Nicolino, Pierre-Yves Benhamou, Olivier Fain, Nathalie Costedoat-Chalumeau, Marie-France Courcoux, Jean-François Viallard, Bertrand Godeau, Thomas Papo, Patrick Vermersch, Isabelle Bourgault-Villada, Gerard Breart, Lucien Abenhaim, Firas Abbas, Abdelhakim Abdelmoumni, Pascal Hilliquin, Elisabeth Requeda, Daniel Adoue, Christian Agard, Agathe Masseau, Nathalie Aladjidi, Helder Fernandes, Gwendal Lemasson, Yves Perel, Isabelle Raymond, Olivier Richer, Anne Vital, Emma Allain-Launay, Marie Bru, Caroline Thomas, Jean-Jacques Altman, Daniel Amsallem, Nazmiye Aras, Latifato Boukari, Marie Dubrel, Edouard Letellier, Nadine Lucidarme, Arsène Mekinian, Anne-Sophie Morin, Jérôme Stirnemann, Catherine Atlan, Dominique Audry, Jérôme Augustin, Redouane Bakir, Pablo Bartolucci, Xavier Chevalier, Constance Guillaud, Mehdi Khellaf, Nicolas Limal, Valentine Lousteau, Matthieu Mahevas, Gayane Méliksetyan, Marc Michel, Mathilde Roumier, Sophie Bayart, Fabrice Bonnet, Olivier Decaux, Amine Bekherraz, Benoit Brihaye, Roger Dachez, Eric Daugas, Gilles Hayem, Olivier Meyer, Elisa Pasqualoni, Karim Sacre, Florence Travert, Hélène Bellon, Jacques Beltrand, François Lefrere, Albane Simon, Olivier Benveniste, Francis Bolgert, Raphael De Paz, Sophie Demeret, Bruno Fautrel, Sophie Jacqueminet, Céline Louapre, Elizabeth Maillart, Nathalie Morel, Julie Rigabert, Philippe Bensaid, Claire Berger, Patrick Berquin, Anne-Gaëlle Le Moing, Stéphane Berroir, Gérard Besson, Célia Boutte, Olivier Casez, Bernard Bonnotte, Sylvain Audia, Cécile Bossu-Estour, Anne Bourgarit, Alain Dupuy, Homa Keshmandt, Bertrand Bourre, Aude Brac, Agnès Perrin, Corinne Pondarré, Sylvie Villar-Fimbel, Isabelle Bruckert, Anne Cosson, Nadine Magy-Bertrand, Guillaume Tisserand, William Camu, Bertrand Carlander, Raul Juntas Morales, Claude Cances, Marlene Pasquet, Maria Angela Castilla Lievre, Stephanie Chabroux, Mamoud Charif, Emmanuel Chatelus, Jean Sibilia, Jacqueline Chevrant-Breton, Sylvaine Clavel, Françoise Bille-Turc, Jacques Cohen, Marie France Courcoux, Guy Leverger, Laurent Machet, Jean-Marie Cuisset, Pascale Cony-Makhoul, Paul Darsy, Sandrine Favre, Pierrick Giraud, Laurence Leitenschenck, Irène Monteiro, Chafika Morati, Jérôme DeSeze, Monica Dinulescu, Taher Dhaoui, Florence Dommange-Romero, Elisabeth Drevard, Clémentine Dupuis, Marie-Laure Dumuis, Jean-Marc Durand, Samia Farad, Pierre Lecomte, Peggy Pierre, Fanny Fouyssac, Philippe Gaudin, Alain Gautier, Justine Gellen-Dautremer, Irène Jarrin, Pascal Richette, Emilie Georget, Pierre Gras, Thibault Moreau, Eric Giraud, Maya Hacini, Anne Mayer, Cécile Guillaumat, Séverine Guillaume, Corinne Guitton, Isabelle Kone-Paut, Céline Marsaud, Linda Rossi, Marie-Hélène Guyot, Patrick Hassler, Claude Heimfert, Olivier Heinzlef, Brigitte Hillion, Catherine Hocquelet, Helene Husson, Pierre Ichai, Eric Jeziorski, Chantal Job Deslandre, Véronique Le Guern, Kamen Kamenov, Véronique Kerlan, Philippe Lemoine, Laurent Misery, Brigitte Pan-Petesch, Pierre Labauge, Michel Rodier, Chadi Lacade, Berthe Razafimahefa, Karim Lachgar, Marie-Pierre Larmarau, Thierry Leblanc, Patrick Lefèbvre, Philippe Lejoyeux, Charles Leske, Kim Ly, Laurent Magy, Sylvie Mansuy, Richard Marechaud, Marie-Laure Martin Negrier, Guilhem Sole, Jean Maupetit, Françoise Mazingue, Stéphanie Mochon, Blidi Moktar, Donald Morcamp, Nathalie Morlet-Barla, Guillaume Nicolas, Vivien Pautot, Isabelle Pellier, Jean-Luc Verret, Olivier Outteryck, Beatrice Pallot-Prades, Jean Michel Paquet, Xavier Puechal, Annie Sortais, Jean Pelletier, Audrey Rico, Dominique Pez, Bruno Stankoff, Philippe Quittet, Claude Rémy, Eléna Roba, Hélène Rosario, Nathalie Roudaut, Emmanuel Sonnet, Michel Ruel, Samuel Sebban, Pauline Schaepelynck, Marie-Jeanne Simonin, Christophe Vial, Jean-Francois Viallard, Isabelle Ladedan, Thierry Zenone, LASER ANALYTICA, Paris (LA-SER), Centre d'enseignement Cnam Paris (CNAM Paris), Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM), Service de Rhumatologie [CHU Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Centre de référence des maladies auto-inflammatoires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de médecine interne [Avicenne], Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neurologie [CHU Nice], Hôpital Pasteur [Nice] (CHU)-Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Bordeaux [Bordeaux], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), CHU Grenoble, Service de médecine interne [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de médecine interne et centre de référence des maladies rares [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], CHU Trousseau [APHP], Service de médecine interne et maladies infectieuses [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Saint-André, Service de médecine interne [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département Hospitalo-Universitaire Fibrosis, Inflammation, Remodeling in cardiovascular, respiratory and renal diseases (Paris), Lille Inflammation Research International Center - U 995 (LIRIC), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Claude Huriez [Lille], CHU Lille, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Ambroise Paré [AP-HP], Equipe 1 : EPOPé - Épidémiologie Obstétricale, Périnatale et Pédiatrique (CRESS - U1153), Université Paris Descartes - Paris 5 (UPD5)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), DHU Risques Et Grossesse, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Toulouse [Toulouse], Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Hôpital Avicenne, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Service d’oncologie hématologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), Lille Inflammation Research International Center (LIRIC), Hôpital Claude Huriez, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Ambroise Paré, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), and Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Adult, Male, Risk, Pediatrics, medicine.medical_specialty, Adolescent, Immunology, HPV vaccines, Autoimmune Diseases, Autoimmune thyroiditis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Autoimmune disease, Odds Ratio, medicine, Humans, Immunology and Allergy, Papillomavirus Vaccines, 030212 general & internal medicine, Family history, Young adult, Child, HPV vaccine, business.industry, Pharmacoepidemiology, Papillomavirus Infections, Odds ratio, medicine.disease, Thrombocytopenic purpura, Connective tissue disease, Confidence interval, 3. Good health, Population Surveillance, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: Background Safety of HPV vaccines is still in question due to reports of autoimmune diseases (ADs) following HPV immunization. Objectives To assess the risk of ADs associated with HPV vaccination of female adolescents/young adults in France. Methods Systematic prospective case-referent study conducted to assess the risks associated with real-life use of HPV vaccines. Cases were female 11–25 years old with incident ADs [central demyelination/multiple sclerosis (CD/MS), connective tissue disease (CTD), Guillain-Barre syndrome (GBS), type-1 diabetes (T1D), autoimmune thyroiditis (AT), and idiopathic thrombocytopenic purpura (ITP)]. Cases were consecutively and prospectively identified at specialized centers across France (2008–2014) and individually matched by age and place of residence to referents recruited in general practice. Risk was computed using multivariate conditional logistic regression models adjusted for family history of ADs, living in France (north/south), co-medications and co-vaccinations. Results With a total of 478 definite cases matched to 1869 referents, all ADs combined were negatively associated to HPV vaccination with an adjusted odds ratio of 0.58 (95% confidence interval: 0.41–0.83). Similar results were obtained for CD/MS, AT, CT, and T1D, the last two not reaching statistical significance. No association was found for ITP and GBS. Sensitivity analyses combining definite and possible cases with secondary time window showed similar results. Conclusion Exposure to HPV vaccines was not associated with an increased risk of ADs within the time period studied. Results were robust to case definitions and time windows of exposure. Continued active surveillance is needed to confirm this finding for individual ADs.
Published: 2017

25. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability Role of FLI1, ETS1, and SENCR long noncoding RNA

Author: Solène Conrad, Antoinette Perlat, Kamran Moradkhani, Caroline Thomas, Christèle Dubourg, Sylvie Jaillard, Cécile Pascal, Florence Demurger, Sophie Bayart, Olivier Pichon, Cédric Le Caignec, Mathilde Nizon, Centre hospitalier universitaire de Nantes (CHU Nantes), Génétique médicale [Centre Hospitalier de Vannes], Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Hôpital privé du Confluent [Nantes], CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique médicale [CHU Nantes], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), and Université de Nantes (UN)-Université de Nantes (UN)
Subjects: 0301 basic medicine, Male, Candidate gene, ETS1, [SDV]Life Sciences [q-bio], ARHGAP32, 11q24 deletion, 030105 genetics & heredity, Jacobsen syndrome, Proto-Oncogene Protein c-ets-1, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Jacobsen Distal 11q Deletion Syndrome, 10. No inequality, Gene, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Comparative Genomic Hybridization, [SDV.GEN]Life Sciences [q-bio]/Genetics, SENCR, business.industry, Proto-Oncogene Protein c-fli-1, FLI1, Facies, medicine.disease, Penetrance, 3. Good health, Pedigree, 030104 developmental biology, Phenotype, Autism spectrum disorder, Karyotyping, Female, RNA, Long Noncoding, business, Haploinsufficiency
Abstract: International audience; This report presents two families with interstitial 11q24.2q24.3 deletion, associated with malformations, hematologic features, and typical facial dysmorphism, observed in Jacobsen syndrome (JS), except for intellectual disability (ID). The smallest 700 Kb deletion contains only two genes FLI1 and ETS1, and a long noncoding RNA, SENCR, narrowing the minimal critical region for some features of JS. Consistent with recent literature, it adds supplemental data to confirm the crucial role of FLI1 and ETS1 in JS, namely FLI1 in thrombocytopenia and ETS1 in cardiopathy and immune deficiency. It also supports that combined ETS1 and FLI1 haploinsufficiency explains dysmorphic features, notably ears, and nose anomalies. Moreover, it raises the possibility that SENCR, a long noncoding RNA, could be responsible for limb defects, because of its early role in endothelial cell commitment and function. Considering ID and autism spectrum disorder, which are some of the main features of JS, a participation of ETS1, FLI1, or SENCR cannot be excluded. But, considering the normal neurodevelopment of our patients, their role would be either minor or with an important variability in penetrance. Furthermore, according to literature, ARHGAP32 and KIRREL3 seem to be the strongest candidate genes in the 11q24 region for other Jacobsen patients.
Published: 2019

26. Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry

Author: Nizar Mahlaoui, Capucine Picard, Perrine Bach, Laurence Costes, Virginie Courteille, Anja Ranohavimparany, Alexandre Alcaïs, Jean-Philippe Jais, Alain Fischer, Christine Bellanné-Chantelot, Jacinta Bustamante, Sylvie Chollet-Martin, Christian Drouet, Véronique Fremeaux-Bacchi, Caroline Kannengiesser, Virginie Girardin, Nathalie Lambert, Valérie Proulle, Jérémie Rosain, Marie José Stasia, Dominique Stoppa Lyonnet, Ioannis Theodorou, Wadih Abou-Chahla, Daniel Adoue, Nathalie Aladjidi, Zahir Amoura, Corinne Armari-Alla, Brigitte Bader-Meunier, Vincent Barlogis, Sophie Bayart, Yves Bertrand, Stéphane Blanche, Damien Bodet, Bernard Bonnotte, Raphaël Borie, Patrick Boutard, Claire Briandet, Jean-Paul Brion, Jacques Brouard, Liana Carausu, Emilie Catherinot, Nathalie Cheikh, Sarah Cohen-Beaussant, Louis-Jean Couderc, Pierre Cougoul, Gérard Couillault, Geneviève de Saint Basile, Catherine Devoldere, Anne Deville, Eric Dore, Fabienne Dulieu, Isabelle Durieu, Natacha Entz Werle, Claire Fieschi, Fanny Fouyssac, Pierre Frange, Vincent Gajdos, Lionel Galicier, Virginie Gandemer, Martine Gardembas, Catherine Gaud, Bernard Grosbois, Aurélien Guffroy, Corinne Guitton, Gaelle Guillerm, Eric Hachulla, Mohamed Hamidou, Sophie Haro, Yves Hatchuel, Olivier Hermine, Cyrille Hoarau, Bruno Hoen, Arnaud Hot, Sébastien Humbert, Arnaud Jaccard, Serge Jacquot, Rolland Jaussaud, Pierre-Yves Jeandel, Eric Jeziorski, Kamila Kebaili, Anne-Sophie Korganow, Olivier Lambotte, Fanny Lanternier, Claire Larroche, Alain Le Quellec, Emmanuelle Le Moigne, Vincent Le Moing, David Launay, Yvon Lebranchu, Marc Lecuit, Guillaume Lefevre, Richard Lemal, Valérie Li-Thiao-Te, Olivier Lortholary, Marion Malphettes, Aude Marie-Cardine, Nicolas Martin Silva, Agathe Masseau, Christian Massot, Françoise Mazingue, Etienne Merlin, Gérard Michel, Frédéric Millot, Béatrice Monlibert, Fabrice Monpoux, Despina Moshous, Luc Mouthon, Martine Munzer, Bénédicte Neven, Raphaëlle Nove-Josserand, Dalila Nouar, Eric Oksenhendler, Marie Ouachée-Chardin, Anne Pagnier, Marlène Pasquet, Isabelle Pellier, Yves Perel, Antoinette Perlat, Christophe Piguet, Dominique Plantaz, Pierre Quartier, Frédéric Rieux-Laucat, Pascal Roblot, Pierre-Simon Rohrlich, Bruno Royer, Valéry Salle, Françoise Sarrot-Reynauld, Amélie Servettaz, Jean-Louis Stephan, Nicolas Schleinitz, Felipe Suarez, Laure Swiader, Sophie Taque, Caroline Thomas, Olivier Tournilhac, Caroline Thumerelle, Jean-Pierre Vannier, Jean-François Viallard, IFR Necker-Enfants Malades (IRNEM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Nutrition et Neurobiologie intégrée (NutriNeuro), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1 (UB)-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Service de Biostatistique et Informatique Médicale, Université Paris Descartes - Paris 5 (UPD5), Service d'immuno-hématologie pédiatrique [CHU Necker], Collège de France - Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire d'Immunologie 'Autoimmunité et Hypersensibilités' [AP-HP Hôpital Bichat, Paris], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe de Recherche et d'Etude du Processus Inflammatoire (GREPI), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Service d'immunologie [HEGP, Paris], Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), the Study Center of Primary Immunodeficiencies, CHU Necker - Enfants Malades [AP-HP], Hémostase et biologie vasculaire, Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de biologie structurale (IBS - UMR 5075 ), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre d'Immunologie et de Maladies Infectieuses (CIMI), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Hôpital de la Tronche, Service d'hématologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Hématogoie pédiatrique, hôpital Sud, SIGNAL-IMAGE-COMMUNICATION (SIC), Université de Poitiers-Centre National de la Recherche Scientifique (CNRS), Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (RIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS BFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Service de Pneumologie et Centre de Compétence des Maladies Pulmonaires Rares [AP-HP Hôpital Bichat, Paris], Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de Pédiatrie Enfants - Hématologie Oncologie [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service des Maladies Infectieuses, CHU Grenoble, Service de Pédiatrie Médicale [Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Hôpital Foch [Suresnes], Service de pédiatrie (CHU de Dijon), Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Nice (CHU Nice), Centre d'Investigation Clinique [CHU Clermont-Ferrand] (CIC 1405), Institut National de la Santé et de la Recherche Médicale (INSERM)-Direction de la recherche clinique et de l’innovation [CHU Clermont-Ferrand] (DRCI), CHU Clermont-Ferrand-CHU Clermont-Ferrand, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Immunologie clinique [CHU St-Louis], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Infections à Vih, Réservoirs, Pharmacologie des Antirétroviraux et Prévention de la Transmission Mère Enfant, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Médecine interne et immunologie clinique [Rennes] = internal medicine and clinical immunology [Rennes], CHU Pontchaillou [Rennes], Service d'Immunologie Clinique et de Médecine Interne, Centre National de Référence des Maladies Auto-immunes Rares, Hôpitaux Universitaires de Strasbourg, Service d'hématologie, immunologie biologiques et cytogénétique, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Service Hématologie, Hôpital Morvan [Brest]-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Hôpital Claude Huriez [Lille], CHU Lille, Service de médecine interne [Nantes], Université de Nantes (UN)-Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), 'Personal Protection Against Vectors' working group (PPAV), PPAV working group, cellules dendritiques et greffes (JE 2448), Université de Tours (UT), Laboratoire Chrono-environnement (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Service de Médecine Interne, Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Contrôle de la Réponse Immune B et des Lymphoproliférations (CRIBL), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et biothérapies des maladies inflammatoires et autoimmunes, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Médecine interne, maladies infectieuses, immunologie clinique, Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Institut de Génétique Moléculaire de Montpellier (IGMM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut d’Hémato-Oncologie Pédiatrique, INSERM U1012, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre d'infectiologie Necker-Pasteur [CHU Necker], Institut Pasteur [Paris] (IP)-CHU Necker - Enfants Malades [AP-HP], Internal Medicine, Paris, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Département Maladies Infectieuses et Tropicales, Hôpital Universitaire, Montpellier, France, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de médecine interne [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre collaborateur de l'OMS Listeria / WHO Collaborating Centre Listeria (CC-OMS / WHO-CC), Institut Pasteur [Paris] (IP)-Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), Laboratoire de Génie Electrique de Grenoble (G2ELab), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), CHU Clermont-Ferrand, Service d'Immunopathologie [Hôpital Saint-Louis, Paris], Université Paris Diderot - Paris 7 (UPD7)-Hopital Saint-Louis [AP-HP] (AP-HP), Hôpital Charles Nicolle [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Dept of Physiology, McGill University = Université McGill [Montréal, Canada], Franche-Comté Électronique Mécanique, Thermique et Optique - Sciences et Technologies (UMR 6174) (FEMTO-ST), Université de Technologie de Belfort-Montbeliard (UTBM)-Ecole Nationale Supérieure de Mécanique et des Microtechniques (ENSMM)-Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de médecine interne et centre de référence des maladies rares [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], American Memorial Hospital, American Memory Hospital, Department of Clinical Immunology, Service d'hématologie et immunologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Service Immuno Hémato-Onco Pédiatrique, Sercice Hématologie, immunologie et oncologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Pédiatrie médicale - Spécialités médicales [CHU Limoges], CHU Limoges, Service Hématologie Infantile, CHU Amiens-Picardie, Clinique de médecine interne, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Département de Médecine Interne, Immunologie clinique et maladies infectieuses [CHU Reims], Université de Reims Champagne-Ardenne (URCA)-Centre Hospitalier Universitaire de Reims (CHU Reims), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Centre d'Immunologie de Marseille - Luminy (CIML), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de médecine de l'enfant et de l'adolescent [CHU Rennes], Clinical Haematology, CHU Hôtel-Dieu, Hôpital Haut-Lévêque, Université Sciences et Technologies - Bordeaux 1 (UB)-CHU Bordeaux [Bordeaux], French Ministry of Health, LFB, GlaxoSmithKlineGlaxoSmithKline, CSL BehringCSL Behring, ShireShire, Octapharma, Binding Site, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Chaire Médecine expérimentale (A. Fischer), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), GREPI, Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Toulouse [Toulouse]-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine interne [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté]), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Institut Pasteur [Paris]-CHU Necker - Enfants Malades [AP-HP], Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut Pasteur [Paris]-Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Université de Technologie de Belfort-Montbeliard (UTBM)-Ecole Nationale Supérieure de Mécanique et des Microtechniques (ENSMM)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hématologie pédiatrique, CHU Toulouse [Toulouse], CHU Saint-Etienne, Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Service de médecine de l'enfant et de l'adolescent, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université Sciences et Technologies - Bordeaux 1-CHU Bordeaux [Bordeaux], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Nutrition et Neurobiologie intégrée (NutriNeur0), Ecole nationale supérieure de chimie, biologie et physique-Institut Polytechnique de Bordeaux-Université Sciences et Technologies - Bordeaux 1-Institut National de la Recherche Agronomique (INRA)-Université Bordeaux Segalen - Bordeaux 2, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie structurale (IBS - UMR 5075), Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Sud, Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (HOTE GREFFON), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-France-Comté] (EFS [Bourgogne-France-Comté])-Université de Franche-Comté (UFC), CIC - Clermont Ferrand, Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Apoptose et Progression tumorale (CRCNA / Equipe 9), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche en Santé de l'Université de Nantes (IRS-UN), Service de médecine interne, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Hôpital Morvan [Brest], Hôpital Claude Huriez, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université de Tours, Laboratoire Chrono-environnement - UFC (UMR 6249) (LCE), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Centre National de la Recherche Scientifique (CNRS)-Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre collaborateur de l'OMS Listeria - Biologie des Infections (CCOMS), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-Institut Polytechnique de Grenoble - Grenoble Institute of Technology-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Université Paris Diderot - Paris 7 (UPD7)-CHU Saint Louis [APHP], McGill University, Université de Franche-Comté (UFC)-Centre National de la Recherche Scientifique (CNRS)-Ecole Nationale Supérieure de Mécanique et des Microtechniques (ENSMM)-Université de Technologie de Belfort-Montbeliard (UTBM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Centre de Recherche sur le Cancer Nantes-Angers (LUNAM), Université d'Angers (UA)-Université de Nantes (UN), Centre Hospitalier Universitaire d'Amiens (CHU), centre hospitalier universitaire amiens, CHU Bordeaux [Bordeaux]-Université Sciences et Technologies - Bordeaux 1, Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])-Université de Franche-Comté (UFC)
Subjects: 0301 basic medicine, Primary Immunodeficiency Diseases, medicine.medical_treatment, Genetic counseling, Immunology, Genomics, Bioinformatics, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, Genotype, Humans, Immunology and Allergy, Medicine, Genetic Testing, Registries, Retrospective Studies, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM], business.industry, Common variable immunodeficiency, Retrospective cohort study, medicine.disease, Phenotype, 3. Good health, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], 030104 developmental biology, Identification (biology), France, business, 030215 immunology
Abstract: International audience; To the Editor:Since the mid-1980s, continuous progress in genetics and genomics has accelerated the rapid identification of causative genetic variants leading to primary immunodeficiencies (PIDs; >300 genes),1 with the noticeable exception of B-cell disorders, such as common variable immunodeficiency (CVID). The identification of these mutations not only validates a clinical diagnosis but also is useful in several other respects (more accurate prognosis on phenotype/genotype correlation, targeted therapy, and genetic counseling). [...]
Published: 2019

27. Determinants of adherence and consequences of the transition from adolescence to adulthood among young people with severe haemophilia (TRANSHEMO): study protocol for a multicentric French national observational cross-sectional study

Author: Noémie Resseguier, Natacha Rosso-Delsemme, Any Beltran Anzola, Karine Baumstarck, Vanessa Milien, Laurent Ardillon, Sophie Bayart, Claire Berger, Marie-Anne Bertrand, Christine Biron-Andreani, Annie Borel-Derlon, Sabine Castet, Pierre Chamouni, Ségolène Claeyssens Donadel, Emmanuelle De Raucourt, Dominique Desprez, Céline Falaise, Birgit Frotscher, Valérie Gay, Jenny Goudemand, Yves Gruel, Benoît Guillet, Annie Harroche, Abel Hassoun, Yoann Huguenin, Thierry Lambert, Aurélien Lebreton, Anne Lienhart, Michèle Martin, Sandrine Meunier, Fabrice Monpoux, Guillaume Mourey, Claude Negrier, Philippe Nguyen, Placide Nyombe, Caroline Oudot, Brigitte Pan-Petesch, Benoît Polack, Anne Rafowicz, Antoine Rauch, Delphine Rivaud, Pascale Schneider, Alexandra Spiegel, Cecile Stoven, Brigitte Tardy, Marc Trossaërt, Jean-Baptiste Valentin, Stéphane Vanderbecken, Fabienne Volot, Annelise Voyer-Ebrard, Bénédicte Wibaut, Tanguy Leroy, Thomas Sannie, Hervé Chambost, Pascal Auquier, Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU), Hématogoie pédiatrique, hôpital Sud, Département d'hématologie biologique[Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Saint Eloi (CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire d'Hématologie Biologique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Laboratoire d'hématologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre Hospitalier de Versailles André Mignot (CHV), Service de pédiatrie, d'hématologie et d'oncologie [Hôpital de La Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service d’Hématologie Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'Hématologie, Centre Hospitalier Chambéry, Hôpital cardiologique, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Groupe innovation et ciblage cellulaire (GICC), EA 7501 [2018-...] (GICC EA 7501), Université de Tours (UT), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Unité de Nutrition Humaine (UNH), Institut National de la Recherche Agronomique (INRA)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre Hospitalier Universitaire de Nancy (CHU Nancy), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (RIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS BFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Universitaire de Lyon (CHU Lyon), Service de Pédiatrie médicale - Spécialités médicales [CHU Limoges], CHU Limoges, Hôpital Morvan [Brest], Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), CIC Brest, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital de la Cavale Blanche, Thérapeutique Recombinante Expérimentale (TIMC-IMAG-TheREx), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Service d'hémato-immuno-oncologie pédiatrique [Rouen], Groupe de recherche sur la thrombose, pharmacologie des antithrombotiques et situations à risque (GRT), Université Jean Monnet - Saint-Étienne (UJM), Centre hospitalier universitaire de Nantes (CHU Nantes), Groupe de Recherche en Psychologie Sociale (GRePS), Université Lumière - Lyon 2 (UL2), Service d'hématologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Santé Publique, Université de la Méditerranée - Aix-Marseille 2, Ministère des Affaires Sociales et de la Santé, Filière MHEMO, Université Aix-Marseille, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-CHU Saint-Eloi, Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté]), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Groupe de recherche sur la thrombose (GRT (EA 3065)), Université Jean Monnet [Saint-Étienne] (UJM), Hôpital Sud, Centre hospitalier de Versailles André-Mignot, 177, rue de Versailles, 78150 Le Chesnay, France, parent, Université de Tours, Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Unité de Nutrition Humaine - Clermont Auvergne (UNH), Institut National de la Recherche Agronomique (INRA)-Université Clermont Auvergne (UCA), CHU de Nancy - Hôpitaux de Brabois, Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (HOTE GREFFON), Université de Franche-Comté (UFC)-Etablissement français du sang [Bourgogne-France-Comté] (EFS [Bourgogne-France-Comté])-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Brest (UBO), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])-Université de Franche-Comté (UFC), and Jonchère, Laurent
Subjects: [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, Male, Activities of daily living, Cross-sectional study, [SDV]Life Sciences [q-bio], 030204 cardiovascular system & hematology, 0302 clinical medicine, Risk Factors, Academic Performance, Protocol, Early childhood, adherence, adolescents, Young adult, ComputingMilieux_MISCELLANEOUS, Qualitative Research, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, transition, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, General Medicine, 3. Good health, [SDV] Life Sciences [q-bio], Patient Satisfaction, Female, Family Relations, France, Psychosocial, Attitude to Health, Haematology (Incl Blood Transfusion), Adult, young adults, medicine.medical_specialty, Transition to Adult Care, Adolescent, haemophilia, Haemophilia, Hemophilia A, 03 medical and health sciences, Young Adult, Quality of life (healthcare), 030225 pediatrics, medicine, Humans, business.industry, Protective Factors, medicine.disease, Treatment Adherence and Compliance, Cross-Sectional Studies, Social Class, Family medicine, Quality of Life, Observational study, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: IntroductionSevere haemophilia is a rare disease characterised by spontaneous bleeding from early childhood, which may lead to various complications, especially in joints. It is nowadays possible to avoid these complications thanks to substitutive therapies for which the issue of adherence is major. The transition from adolescence to adulthood in young people with severe haemophilia is a critical period as it is associated with a high risk of lack of adherence to healthcare, which might have serious consequences on daily activities and on quality of life.Methods and analysisWe present the protocol for a cross-sectional, observational, multicentric study to assess the differences between adolescents and young adults with severe haemophilia in France through the transition process, especially on adherence to healthcare. This study is based on a mixed methods design, with two complementary and consecutive phases, comparing data from a group of adolescents (aged 14–17 years) with those from a group of young adults (aged 20–29 years). The quantitative phase focuses on the determinants (medical, organisational, sociodemographic and social and psychosocial and behavioural factors) of adherence to healthcare (considered as a marker of the success of transition). The qualitative phase explores participants’ views in more depth to explain and refine the results from the quantitative phase. Eligible patients are contacted by the various Haemophilia Treatment Centres participating in the French national registry FranceCoag.Ethics and disseminationThe study was approved by the French Ethics Committee and by the French National Agency for Medicines and Health Products Safety (number: 2016-A01034-47). Study findings will be disseminated to the scientific and medical community in peer-reviewed journals and presented at scientific meetings. Results will be popularised to be communicated via the French association for people with haemophilia to participants and to the general public.Trial registration numberNCT02866526; Pre-results.
Published: 2018

28. Evaluation of the efficiency of hydroxychloroquine in treating children with immune thrombocytopenia (ITP)

Author: Marion Gilibert-Yvert, Isabelle Pellier, Pierre Quartier, Nathalie Aladjidi, Guy Leverger, Marlène Pasquet, Ombeline Roche, Bénédicte Neven, Josué Rakotonjanahary, Mary-France Courcoux, Caroline Thomas, Sophie Bayart, Thierry Leblanc, Innate Immunity and Immunotherapy (CRCINA-ÉQUIPE 7), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Bernardo, Elizabeth, and Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)
Subjects: medicine.medical_specialty, business.industry, MEDLINE, Hydroxychloroquine, [SDV.CAN]Life Sciences [q-bio]/Cancer, Hematology, 030204 cardiovascular system & hematology, Dermatology, Immune thrombocytopenia, 3. Good health, Clinical trial, 03 medical and health sciences, Purpura, 0302 clinical medicine, Multicenter study, [SDV.CAN] Life Sciences [q-bio]/Cancer, medicine, medicine.symptom, business, ComputingMilieux_MISCELLANEOUS, 030215 immunology, medicine.drug
Abstract: International audience
Published: 2017

29. Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

Author: Ibrahim Eker, Maria Luisa Lozano, Erica De Candia, Emanuela Falcinelli, Barbara Zieger, Paquita Nurden, Claire Flaujac, Cristina Santoro, Rezan A. Kadir, Marco Cattaneo, Gian Marco Podda, Fabrizio Fabris, James B. Bussel, Patrizia Noris, Federica Melazzini, Alberto Tosetto, Andrew D Mumford, Koji Miyazaki, Nora C. Butta, Sophie Bayart, Paula G. Heller, Alessandro Pecci, Pamela Zúñiga, Gul Nihal Ozdemir, Yvonne M. C. Henskens, Rémi Favier, Ana Rosa Cid, Michele P. Lambert, Ana C. Glembotsky, Loredana Bury, Nuria Bermejo, Nicole Schlegel, Paolo Gresele, Marc Fouassier, Sara Orsini, Emmanuel de Maistre, RS: CARIM - R1.04 - Clinical thrombosis and haemostasis, and MUMC+: DA CDL Algemeen (9)
Subjects: Excessive Bleeding, Male, PERIOPERATIVE MANAGEMENT, Premedication, 030204 cardiovascular system & hematology, Hemorrhagic disorder, Bernard–Soulier syndrome, 0302 clinical medicine, Postoperative Complications, Risk Factors, Antifibrinolytic agent, HERMANSKY-PUDLAK-SYNDROME, Desmopressin, Child, Aged, 80 and over, DIFFERENT FORMS, Incidence, Hematology, Middle Aged, Treatment Outcome, Child, Preschool, Surgical Procedures, Operative, Female, medicine.drug, VON-WILLEBRAND-DISEASE, Adult, medicine.medical_specialty, Adolescent, Platelet disorder, ELTROMBOPAG, Hemorrhage, DIAGNOSIS, BERNARD-SOULIER-SYNDROME, Risk Assessment, Article, 03 medical and health sciences, Young Adult, FACTOR-VII, medicine, Von Willebrand disease, Platelet Biology & Its Disorders, Humans, GLANZMANN THROMBASTHENIA, Aged, business.industry, THROMBOCYTOPENIA, medicine.disease, Surgery, Patient Outcome Assessment, Blood Platelet Disorders, Complication, business, 030215 immunology
Abstract: Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders. We performed a worldwide, multicentric, retrospective study to assess the bleeding complications of surgery, the preventive and therapeutic approaches adopted, and their efficacy in patients with inherited platelet disorders: the Surgery in Platelet disorders And Therapeutic Approach (SPATA) study. We rated the outcome of 829 surgical procedures carried out in 423 patients with well-defined forms of inherited platelet disorders: 238 inherited platelet function disorders and 185 inherited platelet number disorders. Frequency of surgical bleeding was high in patients with inherited platelet disorders (19.7%), with a significantly higher bleeding incidence in inherited platelet function disorders (24.8%) than in inherited platelet number disorders (13.4%). The frequency of bleeding varied according to the type of inherited platelet disorder, with biallelic Bernard Soulier syndrome having the highest occurrence (44.4%). Frequency of bleeding was predicted by a pre-operative World Health Organization bleeding score of 2 or higher. Some types of surgery were associated with a higher bleeding incidence, like cardiovascular and urological surgery. The use of pre-operative pro-hemostatic treatments was associated with a lower bleeding frequency in patients with inherited platelet function disorders but not in inherited platelet number disorders. Desmopressin, alone or with antifibrinolytic agents, was the preventive treatment associated with the lowest bleedings. Platelet transfusions were used more frequently in patients at higher bleeding risk. Surgical bleeding risk in inherited platelet disorders is substantial, especially in inherited platelet function disorders, and bleeding history, type of disorder, type of surgery and female sex are associated with higher bleeding frequency. Prophylactic pre-operative pro-hemostatic treatments appear to be required and are associated with a lower bleeding incidence.
Published: 2017

30. Benefits of rituximab as a second-line treatment for autoimmune haemolytic anaemia in children: a prospective French cohort study

Author: Patrick Lutz, Guy Leverger, Isabelle Pellier, Eric Jeziorski, Aude Marie-Cardine, Marlène Pasquet, Corinne Armari-Alla, Nathalie Aladjidi, Brigitte Nelken, Christophe Piguet, Stéphane Ducassou, Hervé Chambost, Fanny Fouissac, Y Perel, Sophie Bayart, Alain Fisher, Helder Fernandes, Yves Bertrand, Marc Michel, Odile Lejars, Thierry Leblanc, Corinne Guitton, Philippe Vic, Fabrice Monpoux, CHU de Bordeaux Pellegrin [Bordeaux], Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), CHU Bordeaux [Bordeaux], Service d'hématologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital de la Tronche, Service pédiatrique d'hématologie-oncologie, Hôpital Jeanne de Flandre [Lille], Unité d'Hémato-Immunologie pédiatrique [Hôpital Robert Debré, Paris], Service d'Immuno-hématologie pédiatrique [Hôpital Robert Debré, Paris], Hôpital Robert Debré-Hôpital Robert Debré, Service d'hématologie, immunologie biologiques et cytogénétique, Hôpital Bicêtre-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de pédiatrie, CHU Grenoble, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes), Service de Pédiatrie médicale - Spécialités médicales [CHU Limoges], CHU Limoges, Hématogoie pédiatrique, hôpital Sud, Hôpital Charles Nicolle [Rouen], Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Service de médecine interne [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and CHU Rouen
Subjects: Male, medicine.medical_specialty, Evans syndrome, Adolescent, [SDV]Life Sciences [q-bio], Steroid withdrawal, 03 medical and health sciences, 0302 clinical medicine, Interquartile range, Internal medicine, medicine, Humans, Blood Transfusion, Prospective Studies, Child, Complete response, ComputingMilieux_MISCELLANEOUS, Second line treatment, business.industry, Drug Substitution, Hematology, medicine.disease, 3. Good health, Treatment Outcome, 030220 oncology & carcinogenesis, Child, Preschool, Immunology, National study, Hematinics, [SDV.IMM]Life Sciences [q-bio]/Immunology, Rituximab, Female, Steroids, Anemia, Hemolytic, Autoimmune, France, business, 030215 immunology, Cohort study, medicine.drug
Abstract: Summary Childhood autoimmune haemolytic anaemia (AIHA) requires second-line immunosuppressive therapy in 30–50% of cases. It appears that rituximab is indicated in such circumstances. This prospective national study reports the practice, efficacy and tolerance of rituximab in children with isolated AIHA and AIHA in the setting of Evans syndrome (ES). Sixty-one children were given rituximab between 2000 and 2014. The median interval from diagnosis to rituximab was 9·9 [interquartile range (IQR) 1·6–28·5] months. Forty-six patients responded (75%) and the 6-year relapse-free survival (RFS) was 48%. Twenty patients relapsed at a median interval of 10·8 (IQR 3·9–18·7) months, rituximab allowed steroid withdrawal in 44/61 (72%) of children. In isolated AIHA, complete response and 6-year RFS were significantly higher than in ES (P
Published: 2016

31. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Author: Paula G. Heller, Loredana Bury, Catherine Trichet, Nuria Pujol-Moix, Alessandro Pecci, Fabrizio Fabris, Maria Luigia Randi, Ana C. Glembotsky, Marco Cattaneo, Adam Cuker, Jeanne-Yvonne Borg, Nathalie Trillot, James B. Bussel, Patrizia Noris, E Muniz-Diaz, François Lanza, Lucia Dora Notarangelo, Dominique Martin-Coignard, Anne Bauters, Paolo Gresele, Thomas Lecompte, Catherine Klersy, Sandra Mercier, Giuseppe Loffredo, Marie-Françoise Hurtaud-Roux, Véronique Le Cam Duchez, Emanuela Falcinelli, Nicole Schlegel, Erica De Candia, Dino Veneri, Schéhérazade Benabdallah-Guedira, Fanny Menard, Catherine Pouymayou, Ilaria Nichele, Chloé James, Michela Faleschini, Elisa Civaschi, Caterina Marconi, Roberta Bottega, Tommaso Pippucci, Pierre Sié, Sophie Bayart, Béatrice Saposnik, Daniela De Rocco, Rémi Favier, Françoise Boehlen, Pierre Fontana, Alina Ferster, Anna Savoia, Carlo L. Balduini, Pamela Magini, Bruno Royer, Véronique Latger-Cannard, Alessandra Tucci, Dominique Fleury, Agnes Rigouzzo, Tiziana Fierro, Gian Marco Podda, Emmanuel de Maistre, Silvia Ferrari, Paquita Nurden, Pietro Minuz, Andreas Greinacher, Virginie Siguret, A. M. Mezzasoma, Patrizia, Nori, Nicole, Schlegel, Catherine, Klersy, Paula G., Heller, Elisa, Civaschi, Nuria Pujol, Moix, Fabrizio, Fabri, Remi, Favier, Paolo, Gresele, Véronique Latger, Cannard, Adam, Cuker, Paquita, Nurden, Andreas, Greinacher, Marco, Cattaneo, Erica De, Candia, Alessandro, Pecci, Marie Françoise Hurtaud, Roux, Ana C., Glembotsky, Eduardo Muñiz, Diaz, Maria Luigia, Randi, Nathalie, Trillot, Loredana, Bury, Thomas, Lecompte, Caterina, Marconi, Savoia, Anna, Carlo L., Balduini, Sophie, Bayart, Anne, Bauter, Schéhérazade Benabdallah, Guedira, Françoise, Boehlen, Jeanne Yvonne, Borg, Bottega, Roberta, James, Bussel, DE ROCCO, Daniela, Emmanuel de, Maistre, Faleschini, Michela, Emanuela, Falcinelli, Silvia, Ferrari, Alina, Ferster, Tiziana, Fierro, Dominique, Fleury, Pierre, Fontana, Chloé, Jame, Francois, Lanza, Véronique Le Cam, Duchez, Giuseppe, Loffredo, Pamela, Magini, Dominique Martin, Coignard, Fanny, Menard, Sandra, Mercier, Annamaria, Mezzasoma, Pietro, Minuz, Ilaria, Nichele, Lucia D., Notarangelo, Tommaso, Pippucci, Gian Marco, Podda, Catherine, Pouymayou, Agnes, Rigouzzo, Bruno, Royer, Pierre, Sie, Virginie, Siguret, Catherine, Trichet, Alessandra, Tucci, Béatrice, Saposnik, Dino, Veneri, Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux MF, Glembotsky AC, Muñiz-Diaz E, Randi ML, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, and Balduini CL
Subjects: Pediatrics, Blood transfusion, medicine.medical_treatment, PLAQUETAS, Medicina Clínica, Retrospective Studie, Pregnancy, purl.org/becyt/ford/3.2 [https], inherited thrombocytopenia, Young adult, ddc:616, education.field_of_study, Hematology, Medicine (all), TROMBOCITOPENIA, Articles, platelets, purl.org/becyt/ford/3 [https], Female, Medicina Critica y de Emergencia, Human, Adult, medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, Population, Humans, Infant, Newborn, Pregnancy Complications, Hematologic, Retrospective Studies, Thrombocytopenia, Young Adult, NO, bleeding risk, Hematologic, Internal medicine, medicine, education, Fetus, Hysterectomy, business.industry, Inherited thrombocytopenias, DIÁMETRO PLAQUETARIO, Infant, Retrospective cohort study, pregnancy, medicine.disease, Newborn, Pregnancy Complications, Settore MED/15 - MALATTIE DEL SANGUE, HEREDITARIA, business
Abstract: Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack of consistent information in the literature. To advance knowledge on this matter, we performed a multicentric, retrospective study evaluating 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Neither the degree of thrombocytopenia nor the severity of bleeding tendency worsened during pregnancy and the course of pregnancy did not differ from that of healthy subjects in terms of miscarriages, fetal bleeding and pre-term births. The degree of thrombocytopenia in the babies was similar to that in the mother. Only 7 of 156 affected newborns had delivery-related bleeding, but 2 of them died of cerebral hemorrhage. The frequency of delivery-related maternal bleeding ranged from 6.8% to 14.2% depending on the definition of abnormal blood loss, suggesting that the risk of abnormal blood loss was increased with respect to the general population. However, no mother died or had to undergo hysterectomy to arrest bleeding. The search for parameters predicting delivery-related bleeding in the mother suggested that hemorrhages requiring blood transfusion were more frequent in women with history of severe bleedings before pregnancy and with platelet count at delivery below 50 × 10(9)/L. Fil: Noris, Patrizia. Istituti di Ricovero e Cura a Carattere Scientifico. Policlinico San Matteo di Pavia; Italia. Università degli Studi di Pavia; Italia Fil: Schlegel, Nicole. Université Paris Diderot - Paris 7; Francia Fil: Klersy, Catherine. Istituti di Ricovero e Cura a Carattere Scientifico. Policlinico San Matteo di Pavia; Italia Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Civaschi, Elisa. Università degli Studi di Pavia; Italia Fil: Pujol Moix, Nuria. Universitat Autònoma de Barcelona; España Fil: Fabris, Fabrizio. Università di Padova; Italia Fil: Favier, Remi. Inserm; Francia. Armand Trousseau Children’s Hospital; Francia. French Reference Center for Inherited Platelet disorders; Francia Fil: Gresele, Paolo. Università di Perugia; Italia Fil: Latger Cannard, Véronique. Centre Hospitalo-Universitaire. Service d’Hématologie Biologique; Francia. Reference French Centre. Centre de Compétence Nord-Est des Pathologies Plaquettaires; Francia Fil: Cuker, Adam. University of Pennsylvania; Estados Unidos Fil: Nurden, Paquita. Hôpital Xavier Arnozan; Francia Fil: Greinacher, Andreas. Institut für Immunologie und Transfusionsmedizin; Alemania Fil: Cattaneo, Marco. Università degli Studi di Milano; Italia Fil: De Candia, Erica. Università Cattolica del Sacro Cuore; Italia Fil: Pecci, Alessandro. Università degli Studi di Pavia; Italia Fil: Hurtaud Roux, Marie Françoise. Université Paris Diderot - Paris 7; Francia Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Muñiz Diaz, Eduardo. Banc de Sang i Teixits de Catalunya. Immunohematology Department; España Fil: Randi, Maria Luigia. Università di Padova; Italia Fil: Trillot, Nathalie. Centre Hospitalier Régional Universitaire de Lille. Pôle Biologie Pathologie Génétique. Institut d’Hématologie-Transfusion; Francia Fil: Bury, Loredana. Università di Perugia; Italia Fil: Lecompte, Thomas. Hôpitaux Universitaires de Genève; Suiza. Université de Genève. Faculté de Médecine; Suiza Fil: Marconi, Caterina. Università di Bologna; Italia Fil: Savoia, Anna. Università degli Studi di Trieste; Italia Fil: Balduini, Carlo L.. Istituti di Ricovero e Cura a Carattere Scientifico Burlo Garofolo. Institute for Maternal and Child Health; Italia. Università degli Studi di Pavia; Italia Fil: European Hematology Association Scientific Working Group on Thrombocytopenias and Platelet Function Disorders. No especifica
Published: 2014

32. Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

Author: Paquita Nurden, Sylvie Daliphard, Pascale Cornillet-Lefebvre, Anne Bauters, Paola Ballerini, Thomas Lecompte, Philippe Jonveaux, Rémi Favier, Guy Leverger, Aline Renneville, Véronique Latger-Cannard, Alexandre Bouquet, Claude Preudhomme, Véronique Baccini, Sophie Bayart, Marie-Joelle Mozziconacci, Christophe Philippe, Marie-Christine Alessi, Hagay Sobol, Annick Ankri, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition, obésité et risque thrombotique (NORT), Aix Marseille Université (AMU)-Institut National de la Recherche Agronomique (INRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'hématologie, Centre Hospitalier Universitaire de Reims (CHU Reims), Hôpital Robert Debré, Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Centre de Recherche en Cancérologie de Marseille (CRCM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Service d'Hématologie Cellulaire [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), Service d'Oncologie Génétique, de Prévention et Dépistage, Service de Génétique Médicale [CHRU Nancy], IHU-LIRYC, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux], Division of Haematology (Div Haemato - GENEVE), Hôpitaux Universitaires de Genève (HUG), Hématopoïèse normale et pathologique (U1170 Inserm), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Recherche Agronomique (INRA)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux]-Université Bordeaux Segalen - Bordeaux 2, CHU Marseille, and ALESSI, Marie-Christine
Subjects: [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, Male, [SDV]Life Sciences [q-bio], 0302 clinical medicine, hemic and lymphatic diseases, Medicine, Missense mutation, Leukaemia, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), Blood Platelet Disorders, Medicine(all), Comparative Genomic Hybridization, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, General Medicine, Middle Aged, 3. Good health, Pedigree, Leukemia, Myeloid, Acute, 030220 oncology & carcinogenesis, Child, Preschool, Core Binding Factor Alpha 2 Subunit, Female, Adult, RUNX1, Adolescent, Platelet disorder, Genetic counseling, Familial platelet disorder with predisposition to acute myeloid leukaemia, Frameshift mutation, δ-granule release defect, 03 medical and health sciences, Young Adult, Blood Coagulation Disorders, Inherited, Humans, Allele, Mean platelet volume, Genetic Association Studies, business.industry, Research, Infant, Thrombocytopenia, Transplantation, Immunology, Mutation, business, 030215 immunology
Abstract: Less than 50 patients with FPD/AML (OMIM 601309) have been reported as of today and there may an underestimation. The purpose of this study was to describe the natural history, the haematological features and the genotype-phenotype correlations of this entity in order to, first, screen it better and earlier, before leukaemia occurrence and secondly to optimize appropriate monitoring and treatment, in particular when familial stem cell transplantation is considered., We have investigated 41 carriers of RUNX1 alteration belonging to nine unrelated French families with FPD/AML and two syndromic patients, registered in the French network on rare platelet disorders from 2005 to 2015., Five missense, one non-sense, three frameshift mutations and two large deletions involving several genes including RUNX1 were evidenced. The history of familial leukaemia was suggestive of FPD/AML in seven pedigrees, whereas an autosomal dominant pattern of lifelong thrombocytopenia was the clinical presentation of two. Additional syndromic features characterized two large sporadic deletions. Bleeding tendency was mild and thrombocytopenia moderate (>50 x10(9)/L), with normal platelet volume. A functional platelet defect consistent with a δ-granule release defect was found in ten patients regardless of the type of RUNX1 alteration. The incidence of haematological malignancies was higher when the mutated RUNX1 allele was likely to cause a dominant negative effect (19/34) in comparison with loss of function alleles (3/9). A normal platelet count does not rule out the diagnosis of FPD/AML, since the platelet count was found normal for three mutated subjects, a feature that has a direct impact in the search for a related donor in case of allogeneic haematopoietic stem cell transplantation., Platelet dysfunction suggestive of defective δ-granule release could be of values for the diagnosis of FPD/AML particularly when the clinical presentation is an autosomal dominant thrombocytopenia with normal platelet size in the absence of familial malignancies. The genotype-phenotype correlations might be helpful in genetic counselling and appropriate optimal therapeutic management.
Published: 2016

33. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

Author: Alain Fischer, Johan Provot, Jean-Philippe Jais, Alexandre Alcais, Nizar Mahlaoui, Daniel Adoue, Nathalie Aladjidi, Zahir Amoura, Philippe Arlet, Corinne Armari-Alla, Brigitte Bader-Meunier, Vincent Barlogis, Sophie Bayart, Beatrice Beaurain, Yves Bertrand, Boris Bienvenu, Stéphane Blanche, Damien Bodet, Bernard Bonnotte, Raphaël Borie, Patrick Boutard, Claire Briandet, Jean-Paul Brion, Carolina Brito, Jacques Brouard, Emilie Catherinot, Olivia Chandesris, Sarah Cohen-Beaussant, Hélène Coignard-Biehler, Laurence Costes, Louis-Jean Couderc, Gérard Couillault, Virginie Courteille, Elodie Curlier, Geneviève de Saint Basile, François Demeocq, Nathalie de Vergnes, Catherine Devoldere, Anne Deville, Jean Donadieu, Eric Dore, Fabienne Dulieu, Isabelle Durieu, Christine Edan, Natacha Entz Werle, Claire Fieschi, Fanny Fouyssac, Pierre Frange, Vincent Gajdos, Lionel Galicier, Virginie Gandemer, Martine Gardembas, Catherine Gaud, Bernard Grosbois, Gaelle Guillerm, Eric Hachulla, Mohamed Hamidou, Sébastien Héritier, Olivier Hermine, Cyrille Hoarau, Bruno Hoen, Arnaud Hot, Sébastien Humbert, Arnaud Jaccard, Serge Jacquot, Rolland Jaussaud, Pierre-Yves Jeandel, Eric Jeziorski, Kamila Kebaili, Anne-Sophie Korganow, Philippe Labrune, Olivier Lambotte, Fanny Lanternier, Claire Larroche, Alain Le Quellec, Emmanuelle Le Moigne, Vincent Le Moing, Yvon Lebranchu, Marc Lecuit, Guillaume Lefevre, Richard Lemal, Philippe Le Moine, Valérie Li Thiao Te, Olivier Lortholary, Patrick Lutz, Aude Magerus-Chatinet, Marion Malphettes, Aude Marie-Cardine, Nicolas Martin Silva, Agathe Masseau, Christian Massot, Françoise Mazingue, Etienne Merlin, Gérard Michel, Frédéric Millot, Odile Minckes, Béatrice Monlibert, Fabrice Monpoux, Despina Moshous, Luc Mouthon, Martine Munzer, Bénédicte Neven, Raphaëlle Nove-Josserand, Eric Oksenhendler, Marie Ouachée-Chardin, Anne Pagnier, Jean-Louis Pasquali, Marlène Pasquet, Isabelle Pellier, Yves Perel, Antoinette Perlat, Capucine Picard, Christophe Piguet, Dominique Plantaz, Pierre Quartier, Frédéric Rieux-Laucat, Pascal Roblot, Pierre-Marie Roger, Pierre-Simon Rohrlich, Bruno Royer, Valéry Salle, Françoise Sarrot-Reynauld, Amélie Servettaz, Jean-Louis Stephan, Nicolas Schleinitz, Felipe Suarez, Laure Swiader, Sophie Taque, Caroline Thomas, Olivier Tournilhac, Caroline Thumerelle, Jean-Pierre Vannier, Jean-François Viallard, Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'immuno-hématologie pédiatrique [CHU Necker], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Collège de France - Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Collège de France (CdF), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Chaire Médecine expérimentale (A. Fischer), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE), and Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Adult, Male, Risk, 0301 basic medicine, Primary immunodeficiencies, Adolescent, T-Lymphocytes, Immunology, Population, Context (language use), medicine.disease_cause, Inflammatory bowel disease, Autoimmunity, Young Adult, 03 medical and health sciences, Prevalence, medicine, Humans, Immunology and Allergy, Age of Onset, [SDV.IMM.ALL]Life Sciences [q-bio]/Immunology/Allergology, Child, education, Aged, Retrospective Studies, Aged, 80 and over, Autoimmune disease, Purpura, Thrombocytopenic, Idiopathic, education.field_of_study, business.industry, Common variable immunodeficiency, Autoimmune Cytopenia, autoimmunity, Immunologic Deficiency Syndromes, Infant, Middle Aged, Inflammatory Bowel Diseases, Prognosis, medicine.disease, Survival Analysis, 3. Good health, 030104 developmental biology, inflammation, Child, Preschool, Primary immunodeficiency, Female, France, business
Abstract: International audience; BACKGROUND:Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increase in susceptibility to infections. It is known that PIDs can also predispose to cancer and immune diseases, including allergy, autoimmunity, and inflammation.OBJECTIVE:We aimed at determining the incidence of autoimmunity and inflammation in patients with PIDs.METHODS:We have retrospectively screened 2183 consecutive cases of PID in the Centre de Référence Déficits Immunitaires Héréditaires registry (CEREDIH; the French national PID registry) for the occurrence of autoimmunity and inflammation.RESULTS:One or more autoimmune and inflammatory complications were noted in 26.2% of patients, with a risk of onset throughout the patient's lifetime. The risk of autoimmune cytopenia was at least 120 times higher than in the general population, the risk of inflammatory bowel disease in children was 80 times higher, and the risk of other autoimmune manifestations was approximately 10 times higher. Remarkably, all types of PIDs were associated with a risk of autoimmune and inflammatory complications, although the greatest risk was associated with T-cell PIDs and common variable immunodeficiency. The occurrence of autoimmune disease is a negative prognostic factor for survival.CONCLUSIONS:Our results provide the basis for a detailed prospective evaluation of autoimmunity and inflammation in the context of PIDs, with a view to accurately assessing these risks and describing the possible effect of medical intervention.
Published: 2017

34. Tôles perforées et fragilisation structurale liée à la mise en œuvre des techniques d'assemblage par rivetageStructural embrittlement due to the punchings of riveted joints

Author: Eric Markiewicz, Laurent Patronelli, Bertrand Langrand, Pascal Drazetic, E. Deletombe, and Anne-Sophie Bayart
Subjects: Engineering, business.industry, Mechanical Engineering, Replica, Structural engineering, Industrial and Manufacturing Engineering, Finite element method, Mechanical joint, Rivet, General Materials Science, business, Embrittlement, Scale model, Size effect on structural strength, Parametric statistics
Abstract: In the field of aircraft design, a recent problem deals with the improving of aircraft behaviour during survivable crash events. Two different approaches may be taken. The first one, on an experimental stage, uses replica scale crash models. The second one is based on calculation tools such as FE codes. In spite of many advantages (e.g. cost, parametric studies possibilities), these tools still have drawbacks linked to the representativeness of material and geometrical non-linear behaviours and to mesh sensitivity. According to that point of view, an important problem still concerns the modelling of the plastic strain location in the plates, especially near the holes due to the riveting process. The plastic strain and damage concentration embrittles the structural strength of frameworks and pilots their mechanical ruin. The concepts of the structural embrittlement and if it measurement are introduced by an analytical analysis in the linear and nonlinear field. The measurement of embrittlement is characterised by experimental and numerical ways in order to make up for the limits of analytic methods for the large strain field. Finally a phenomenological model for structural embrittlement is presented and discussed.
Published: 2003

35. Revisiting Splenectomy in Childhood Immune Thrombocytopenic Purpura in the Era of New Therapies: The French Experience

Author: Corinne Guitton, Patrick Boutard, Marlène Pasquet, Dominique Plantaz, Nathalie Aladjidi, Thierry Leblanc, Aude Marie-Cardine, Guy Leverger, Patrick Lutz, Raoul Santiago, Jean-Louis Stephan, Sophie Bayart, Claire Godard Sebillotte, Anne Lambilliotte, Vincent Barlogis, Corinne Pondarré, Pierre Rohrlich, Karine de Bosredon, Y Perel, and Martine Munzer
Subjects: Cytopenia, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Gold standard, Splenectomy, Retrospective cohort study, medicine.disease, Thrombocytopenic purpura, hemic and lymphatic diseases, Relative risk, medicine, business, Laparoscopy, Rare disease
Abstract: Objective: While splenectomy is the gold standard treatment for refractory primary immune thrombocytopenia (ITP) in adult, its place remains debated in children. The French Rare Disease Plan provided us the opportunity to conduct a collaborative study of the efficiency and tolerance of this procedure in childhood ITP. Patients and methods: A retrospective study was conducted in France in order to identify children with ITP treated with splenectomy during a 9-year period. A total of 78 children were included. Data from the ongoing CEREVANCE national cohort of childhood auto-immune cytopenia in 30 units were reviewed and completed by a direct contact with the referent physicians. International terminology for response definition was used. Relapsefree survival was assessed by the Kaplan-Meier method. Results: The median ages at ITP diagnosis and splenectomy were 9.6 and 12.4 years respectively. The median duration of ITP before splenectomy was 24 months (1-162); 62 children had chronic ITP. The median number of treatment lines before splenectomy was 2 (1-7). Laparoscopy was used in 81% of cases. Four children underwent immediate surgical complications. With a median follow-up of 41 months, complete remission (CR) was maintained at the latest news in 84% of children. CR was obtained in 77% of cases with intra-splenic platelets destruction, and in no case with non-splenic destruction (p=0.11). Using a very strict definition for relapse, the 5-year relapse-free survival was 51% [IC95% 37-64]. No death or overwhelming sepsis was reported. Conclusions: In this national study with a long term follow up, the excellent benefit/risk ratio of splenectomy for refractory ITP confirms that in skilled and concerted teams, the procedure is still at the forefront of curative treatments. Isotopic evaluation is of value but other prognostic factors for CR are to be determined. Lifelong survey of potential infectious and thrombotic risk at adult age has to be coordinated by the referring physician. The place for other therapeutic options, in order to postpone as late as possible the splenectomy in childhood ITP is now to be determined.
Published: 2012

36. Une nouvelle mutation ponctuelle dans l’amégacaryocytose congénitale

Author: Béatrice Ly Sunnaram, Jean Hugue Dalle, Sophie Bayart, Stéphane Giraudier, Benoît Guillet, Catherine Henry, Virginie Gandemer, and Sophie Taque
Subjects: Oncology, Pediatrics, Perinatology and Child Health, Hematology
Abstract: Contexte L’amegacaryocytose congenitale (CAMT) est une pathologie rare autosomique recessive caracterisee par une thrombopenie initiale avec absence de megacaryocytes evoluant vers une aplasie medullaire. Elle resulte d’une mutation sur le gene du recepteur de la thrombopoietine MPL. Deux groupes, I et II, sont decrits selon la severite de l’evolution qui est fortement dependante du type de mutation. Observation Nous rapportons ici le cas d’un enfant atteint d’une CAMT du groupe II. Il n’avait pour antecedent qu’une thrombopenie neonatale transitoire non symptomatique a 16 G/L. Il n’existe aucune histoire familiale de thrombopenie. Il est revu a l’âge de 21 mois pour des signes hemorragiques cutaneo-muqueux et une bicytopenie associant une anemie normocytaire a 9,2 g/dL et une thrombopenie normocytaire a 48G/L Il ne presente pas de dysmorphie ni de retard de developpement. Le bilan complementaire va retrouver une hypoplasie medullaire avec de rares megacaryocytes, une faible croissance des progeniteurs hematopoietiques CFU-GM, une tres faible croissance des progeniteurs hematopoietiques CFU-MK et une augmentation de la Thrombopoietine a 2602 pg/L. Devant ses resultats, l’analyse du gene MPL est realisee par sequencage direct des regions codantes. Les exons mutes ont ensuite ete sequences chez les 2 parents. L’enfant est porteur de 2 mutations ponctuelles heterozygotes du gene MPL. La premiere d’origine paternelle, dans l’exon 3 (c.305G > C ; p. R102P), a deja ete rapportee dans la litterature et associee a l’etat homozygote ou heterozygote composite a une CAMT du groupe II. La seconde, sur l’autre allele de MPL car d’origine maternelle, est localisee dans l’exon 11 (c. G1610 > C ; p. R537P) et n’a pas ete decrite a ce jour. Ces 2 mutations deleteres modifient de maniere importante la structure primaire du recepteur de la thrombopoietine en changeant une arginine en proline ; p. R537P est localisee dans le domaine intra-cellulaire du recepteur contrairement a la plupart des mutations decrites dans les CAMT du groupe II comme p. R102P. L’enfant evolue progressivement vers une pancytopenie severe necessitant une allogreffe de sang placentaire a l’âge de 3,5 ans. L’evolution est favorable avec une sortie d’aplasie a j27, un arret des transfusions a j78 et une numeration formule sanguine normale a 6 mois de la greffe (plaquettes sanguines a 256000, hemoglobine a 9,6 g/d et leucocytes a 6,5 G/L avec des PNN a 5,2 G/L). Conclusion L’amegacaryocytose congenitale constitue un diagnostic differentiel a envisager devant une aplasie medullaire idiopathique de l’enfant jeune. Le genotypage de MPL peut permettre de decider rapidement d’une allogreffe avant meme que l’aplasie soit devenue profonde. Nous decrivons ainsi une nouvelle mutation p.R537P qui associee a la mutation p.R102P, est responsable d’une amegacaryocytose congenitale du groupe II.
Published: 2014

37. Rituximab in 42 Cases of French Childhood Auto-Immune Haemolytic Anaemia: High Efficiency but Caution Required

Author: Ducassou, Stéphane, primary, Aladjidi, Nathalie, additional, Pondarre, Corinne, additional, Leblanc, Thierry, additional, Chambost, Hervé, additional, Corinne, Armari-Alla, additional, Marlene, Pasquet, additional, Fernandes, Helder, additional, Sophie, Bayart, additional, Christophe, Piguet, additional, Fanny, Fouyssac, additional, Fabrice, Monpoux, additional, Lejars, Odile, additional, Eric, Jeziorski, additional, Guitton, Corinne, additional, Leverger, Guy, additional, and Perel, Yves, additional
Published: 2011
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38. CL032 - Purpura thrombopénique immunologique de l’enfant : la place de la splénectomie

Author: Raoul Santiago, Guy Leverger, S. Claeyssens, C. Godard Sebillotte, Nathalie Aladjidi, Hervé Chambost, Sophie Bayart, Thierry Leblanc, Y. Perel, Corinne Pondarré, Pierre Rohrlich, F. Lavrand, Aude Marie-Cardine, and Anne Lambilliotte
Subjects: Pediatrics, Perinatology and Child Health
Abstract: Objectif Decrire l’efficacite, la tolerance, et les facteurs predictifs de reussite de la splenectomie dans le purpura thrombopenique immunologique (PTI) de l’enfant. Patients et Methodes Etude retrospective nationale des enfants de moins de 18 ans, traites par splenectomie pour un PTI du 1 er janvier 2000 au 31 aout 2009, conduite par le CEREVANCE, incluant 74 enfants. Resultats L’âge median au diagnostic etait 9,4 ans (0,8-16,5), l’âge median a la splenectomie de 12,5 ans (3,5-17,4), la duree mediane d’evolution du PTI avant splenectomie de 26 mois (1-162). L’intervention a ete realisee par cœlioscopie dans 79% des cas, convertie en laparotomie dans 19% des cas, 9 complications post-operatoires ont ete notees. A 1 mois de la splenectomie, 81% des enfants etaient en remission complete (RC). Avec un suivi median apres splenectomie de 38 mois (0,3-109), 85% des enfants etaient en RC, et 70% sans traitement ni poussee depuis plus d’un an (RCD). Aucune infection severe n’a ete observee. Les enfants en RCD etaient significativement plus âges au diagnostic initial (âge median 11,1 vs 8,2, p = 0,019). Conclusion Cette etude confirme l’excellent rapport benefice-risque de la splenectomie dans le PTI du grand enfant. L’observance des mesures antiinfectieuses est a poursuivre toute la vie.
Published: 2010

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