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71 results on '"Pasquet, Marlene"'

51. Impact and Dynamics of TP53 Mutated Clones in Shwachman Diamond Syndrome in a Series of 80 Patients

Author

Martignoles, Jean-Alain, Hirsch, Pierre, Beaupain, Blandine, Longval, Thomas, Hachem, Nawa, El-Khoury, Mira, Kaltenbach, Sophie, Soulier, Jean, Leblanc, Thierry, Rohrlich, Pierre Simon, Jeziorski, Eric, Meyts, Isabelle, Adjaoud, Dalila, Barlogis, Vincent, Pasquet, Marlène, Largeaud, Laetitia, Sicre de Fontbrune, Flore, Fieschi, Claire, Gandemer, Virginie, Aladjidi, Nathalie, Fouyssac, Fanny, Leverger, Guy, Abou Chahla, Wadih, Blanche, Stephane, Moushous, Despina, Moignet Autrel, Aline, Bertrand, Yves, Renard, Cecile, Flandrin-Gresta, Pascale, Stephan, Jean Louis, Tournilhac, Olivier, Carausu, Liana, Millot, Frederic, Couec, Marielaure, Preudhomme, Claude, Lapillonne, Hélène, Asnafi, Vahid, Revy, Patrick, Bellanne-Chantelot, Christine, Delhommeau, Francois, and Donadieu, Jean

Published
2020
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53. Congenital Neutropenia Is Also Associated with a High Cancer Risk: A Study from the French Severe Chronic Neutropenia Registry

Author

Donadieu, Jean, bou Mitri, Fares, Beaupain, Blandine, Bertrand, Yves, Rohrlich, Pierre Simon, Aladjidi, Nathalie, Rouland, Alexia, Suarez, Felipe, Vanoli, Andre, Fraisse, Jean, Hermine, Olivier, Descamps, Philippe, François, Sylvie, Lapillonne, Hélène, Pasquet, Marlène, Patient, Matthieu, Okhremchuck, Ilona, Blaise, Didier, Legrand, Faezeh, Fieschi, Claire, Sicre de Fontbrune, Flore, cohen Beaussant, Sarah, Kamioner, didier Simon, Bachelerie, Francoise, Deback, Claire, Bellanne-Chantelot, Christine, and Emile, Jean-François

Published
2020
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54. Pediatrics Surface Osteosarcomas: A French Multicenter Study (SURFOS), Which is the Most Appropriate Treatment?

Author

Boulanger, Cecile, primary, Brouchet-Gomez, Anne, additional, De Gauzy, Jerome Sales, additional, Munzer, Caroline, additional, Brugieres, Laurence, additional, Gaspar, Nathalie, additional, Marec-Berard, Perrine, additional, Claude Gentet, Jean, additional, Corradini, Nadege, additional, Demeocq, Francois, additional, Mansuy, Ludovic, additional, Poiree, Maryline, additional, Glorion, Christophe, additional, Tabone, Marie-Dominique, additional, Blouin, Pascale, additional, Castex, Marie-Pierre, additional, and Pasquet, Marlene, additional

Published
2018
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55. Acute megakaryoblastic leukemia (excluding Down syndrome) remains an acute myeloid subgroup with inferior outcome in the French ELAM02 trial

Author

Teyssier, Anne-Charlotte, primary, Lapillonne, Hélène, additional, Pasquet, Marlene, additional, Ballerini, Paola, additional, Baruchel, André, additional, Ducassou, Stephane, additional, Fenneteau, Odile, additional, Petit, Arnaud, additional, Cuccuini, Wendy, additional, Ragu, Christine, additional, Preudhomme, Claude, additional, Mercher, Thomas, additional, Sirvent, Nicolas, additional, and Leverger, Guy, additional

Published
2017
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56. Risk of autoimmune diseases and human papilloma virus (HPV) vaccines: Six years of case-referent surveillance

Author

Grimaldi-Bensouda, Lamiae, primary, Rossignol, Michel, additional, Koné-Paut, Isabelle, additional, Krivitzky, Alain, additional, Lebrun-Frenay, Christine, additional, Clet, Johanna, additional, Brassat, David, additional, Papeix, Caroline, additional, Nicolino, Marc, additional, Benhamou, Pierre-Yves, additional, Fain, Olivier, additional, Costedoat-Chalumeau, Nathalie, additional, Courcoux, Marie-France, additional, Viallard, Jean-François, additional, Godeau, Bertrand, additional, Papo, Thomas, additional, Vermersch, Patrick, additional, Bourgault-Villada, Isabelle, additional, Breart, Gerard, additional, Abenhaim, Lucien, additional, Abbas, Firas, additional, Abdelmoumni, Abdelhakim, additional, Hilliquin, Pascal, additional, Requeda, Elisabeth, additional, Adoue, Daniel, additional, Agard, Christian, additional, Masseau, Agathe, additional, Aladjidi, Nathalie, additional, Fernandes, Helder, additional, Lemasson, Gwendal, additional, Perel, Yves, additional, Raymond, Isabelle, additional, Richer, Olivier, additional, Vital, Anne, additional, Allain-Launay, Emma, additional, Bru, Marie, additional, Thomas, Caroline, additional, Altman, Jean-Jacques, additional, Amsallem, Daniel, additional, Aras, Nazmiye, additional, Boukari, Latifato, additional, Dubrel, Marie, additional, Letellier, Edouard, additional, Lucidarme, Nadine, additional, Mekinian, Arsène, additional, Morin, Anne-Sophie, additional, Stirnemann, Jérôme, additional, Atlan, Catherine, additional, Audry, Dominique, additional, Augustin, Jérôme, additional, Bakir, Redouane, additional, Bartolucci, Pablo, additional, Chevalier, Xavier, additional, Guillaud, Constance, additional, Khellaf, Mehdi, additional, Limal, Nicolas, additional, Lousteau, Valentine, additional, Mahevas, Matthieu, additional, Méliksetyan, Gayane, additional, Michel, Marc, additional, Roumier, Mathilde, additional, Bayart, Sophie, additional, Bonnet, Fabrice, additional, Decaux, Olivier, additional, Bekherraz, Amine, additional, Brihaye, Benoit, additional, Dachez, Roger, additional, Daugas, Eric, additional, Hayem, Gilles, additional, Meyer, Olivier, additional, Pasqualoni, Elisa, additional, Sacre, Karim, additional, Travert, Florence, additional, Bellon, Hélène, additional, Beltrand, Jacques, additional, Lefrere, François, additional, Simon, Albane, additional, Benveniste, Olivier, additional, Bolgert, Francis, additional, De Paz, Raphael, additional, Demeret, Sophie, additional, Fautrel, Bruno, additional, Jacqueminet, Sophie, additional, Louapre, Céline, additional, Maillart, Elizabeth, additional, Morel, Nathalie, additional, Rigabert, Julie, additional, Bensaid, Philippe, additional, Berger, Claire, additional, Berquin, Patrick, additional, Le Moing, Anne-Gaëlle, additional, Berroir, Stéphane, additional, Besson, Gérard, additional, Boutte, Célia, additional, Casez, Olivier, additional, Bonnotte, Bernard, additional, Audia, Sylvain, additional, Bossu-Estour, Cécile, additional, Bourgarit, Anne, additional, Dupuy, Alain, additional, Keshmandt, Homa, additional, Bourre, Bertrand, additional, Brac, Aude, additional, Perrin, Agnès, additional, Pondarré, Corinne, additional, Villar-Fimbel, Sylvie, additional, Bruckert, Isabelle, additional, Cosson, Anne, additional, Magy-Bertrand, Nadine, additional, Tisserand, Guillaume, additional, Camu, William, additional, Carlander, Bertrand, additional, Morales, Raul Juntas, additional, Cances, Claude, additional, Pasquet, Marlene, additional, Castilla Lievre, Maria Angela, additional, Chabroux, Stephanie, additional, Charif, Mamoud, additional, Chatelus, Emmanuel, additional, Sibilia, Jean, additional, Chevrant-Breton, Jacqueline, additional, Clavel, Sylvaine, additional, Bille-Turc, Françoise, additional, Cohen, Jacques, additional, Courcoux, Marie France, additional, Leverger, Guy, additional, Machet, Laurent, additional, Cuisset, Jean-Marie, additional, Cony-Makhoul, Pascale, additional, Darsy, Paul, additional, Favre, Sandrine, additional, Giraud, Pierrick, additional, Leitenschenck, Laurence, additional, Monteiro, Irène, additional, Morati, Chafika, additional, DeSeze, Jérôme, additional, Dinulescu, Monica, additional, Dhaoui, Taher, additional, Dommange-Romero, Florence, additional, Drevard, Elisabeth, additional, Dupuis, Clémentine, additional, Dumuis, Marie-Laure, additional, Durand, Jean-Marc, additional, Farad, Samia, additional, Lecomte, Pierre, additional, Pierre, Peggy, additional, Fouyssac, Fanny, additional, Gaudin, Philippe, additional, Gautier, Alain, additional, Gellen-Dautremer, Justine, additional, Jarrin, Irène, additional, Richette, Pascal, additional, Georget, Emilie, additional, Gras, Pierre, additional, Moreau, Thibault, additional, Giraud, Eric, additional, Hacini, Maya, additional, Mayer, Anne, additional, Guillaumat, Cécile, additional, Guillaume, Séverine, additional, Guitton, Corinne, additional, Kone-Paut, Isabelle, additional, Marsaud, Céline, additional, Rossi, Linda, additional, Guyot, Marie-Hélène, additional, Hassler, Patrick, additional, Heimfert, Claude, additional, Heinzlef, Olivier, additional, Hillion, Brigitte, additional, Hocquelet, Catherine, additional, Husson, Helene, additional, Ichai, Pierre, additional, Jeziorski, Eric, additional, Deslandre, Chantal Job, additional, Le Guern, Véronique, additional, Kamenov, Kamen, additional, Kerlan, Véronique, additional, Lemoine, Philippe, additional, Misery, Laurent, additional, Pan-Petesch, Brigitte, additional, Labauge, Pierre, additional, Rodier, Michel, additional, Lacade, Chadi, additional, Razafimahefa, Berthe, additional, Lachgar, Karim, additional, Larmarau, Marie-Pierre, additional, Leblanc, Thierry, additional, Lefèbvre, Patrick, additional, Lejoyeux, Philippe, additional, Leske, Charles, additional, Ly, Kim, additional, Magy, Laurent, additional, Mansuy, Sylvie, additional, Marechaud, Richard, additional, Martin Negrier, Marie-Laure, additional, Sole, Guilhem, additional, Maupetit, Jean, additional, Mazingue, Françoise, additional, Mochon, Stéphanie, additional, Moktar, Blidi, additional, Morcamp, Donald, additional, Morlet-Barla, Nathalie, additional, Nicolas, Guillaume, additional, Pautot, Vivien, additional, Pellier, Isabelle, additional, Verret, Jean-Luc, additional, Outteryck, Olivier, additional, Pallot-Prades, Beatrice, additional, Paquet, Jean Michel, additional, Puechal, Xavier, additional, Sortais, Annie, additional, Pelletier, Jean, additional, Rico, Audrey, additional, Pez, Dominique, additional, Stankoff, Bruno, additional, Quittet, Philippe, additional, Rémy, Claude, additional, Roba, Eléna, additional, Rosario, Hélène, additional, Roudaut, Nathalie, additional, Sonnet, Emmanuel, additional, Ruel, Michel, additional, Sebban, Samuel, additional, Schaepelynck, Pauline, additional, Simonin, Marie-Jeanne, additional, Vial, Christophe, additional, Viallard, Jean-Francois, additional, Ladedan, Isabelle, additional, and Zenone, Thierry, additional

Published
2017
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57. Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies: Table 1.

Author

Neven, Bénédicte, primary, Pérot, Philippe, additional, Bruneau, Julie, additional, Pasquet, Marlene, additional, Ramirez, Marie, additional, Diana, Jean-Sébastien, additional, Luzi, Stéphanie, additional, Corre-Catelin, Nicole, additional, Chardot, Christophe, additional, Moshous, Despina, additional, Leclerc Mercier, Stéphanie, additional, Mahlaoui, Nizar, additional, Aladjidi, Nathalie, additional, Le Bail, Brigitte, additional, Lecuit, Marc, additional, Bodemer, Christine, additional, Molina, Thierry Jo, additional, Blanche, Stéphane, additional, and Eloit, Marc, additional

Published
2016
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58. Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Author

Bellanné-Chantelot, Christine, Marty, Caroline, Schmaltz-Panneau, Barbara, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debre, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frederic, Bensaid, Philippe, Boesflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Francoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachee, Marie, Pasquet, Marlène, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, and Donadieu, Jean

Published
2017
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59. Frequency and Evolution of TP53 Mutant Clones in Shwachman Diamond Syndrome. a Cohort Study from the French Severe Chronic Neutropenia (SCN) Registry

Author

Donadieu, Jean, Martignoles, Jean-Alain, Beaupain, Blandine, Flandrin-Gresta, Pascale, Moatti, Hannah, Hirsch, Pierre, Moshous, Despina, Blanche, Stephane, Adjaoud, Dalila, Merlin, Etienne, Fouyssac, Fanny, Nachit, Ouahiba, Bertrand, Yves, Gandemer, Virginie, Aladjidi, Nathalie, Pasquet, Marlène, Leblanc, Thierry, Barlogis, Vincent, Meitz, Isabelle, Asnafi, Vahid, Leverger, Guy, Lapillonne, Hélène, bellanne Chantelot, Christine, and Delhommeau, Francois

Published
2017
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61. Efficacy and Safety of Immunosuppressive Therapy with Horse Antithymocyte Globulin (ATGAM) Plus Ciclosporine in 341 Patients with Acquired Aplastic Anemia: Report of the French Patient-Named Program on Behalf of the French Reference Center for Aplastic Anemia

Author

Peffault De Latour, Regis, Tabrizi, Reza, Suarez, Felipe, Lamy, Thierry, Mohty, Mohamad, Récher, Christian, Jubert, Charlotte, Pasquet, Marlène, Galambrun, Claire, Nguyen, Stéphanie, Cahn, Jean-Yves, Brawn, Thorsten, Deconinck, Eric, Bay, Jacques-Olivier, Barraco, Fiorenza, and Socie, Gerard

Published
2016
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62. Genomic Landscape and Prognosis in Pediatric Acute Myeloid Leukemia: A Study on the French ELAM02 Trial

Author

Marceau-Renaut, Alice, Duployez, Nicolas, Ragu, Christine, Petit, Arnaud, Fenneteau, Odile, Cuccuini, Wendy, Figeac, Martin, Labopin, Myriam, Ballerini, Paola Fabiola, Coudé, Marie-Magdelaine, Ducassou, Stéphane, Gandemer, Virginie, Pasquet, Marlène, Michel, Gérard, Nelken, Brigitte, Bertrand, Yves, Baruchel, Andre, Leverger, Guy, Preudhomme, Claude, and Lapillonne, Hélène

Published
2016
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64. Rituximab in 42 Cases of French Childhood Auto-Immune Haemolytic Anaemia: High Efficiency but Caution Required

Author

Piguet Christophe, Stéphane Ducassou, Bayart Sophie, Monpoux Fabrice, Pasquet Marlene, Hervé Chambost, Guy Leverger, Nathalie Aladjidi, Jeziorski Eric, Corinne Pondarre, Fouyssac Fanny, Yves Perel, Odile Lejars, Thierry Leblanc, Armari-Alla Corinne, Helder Fernandes, and Corinne Guitton

Subjects
Pediatrics, medicine.medical_specialty, Cytopenia, Evans syndrome, business.industry, Immunology, Retrospective cohort study, Cell Biology, Hematology, medicine.disease, Biochemistry, Cohort, Medicine, Rituximab, Autoimmune hemolytic anemia, Prospective cohort study, business, Rare disease, medicine.drug
Abstract

Abstract 2100 Background: Autoimmune hemolytic anemia (AIHA) in children is in more than half cases characterized by a severe course, with prolonged need of immunosuppressive therapy. Rituximab is a chimeric anti-CD20 monoclonal antibody increasingly used for treating severe autoimmune diseases. Paediatric experience in AIHA is only made of case reports and short series. The Rare Disease Plan gave us the opportunity to conduct national studies on those rare pediatric diseases. Design and methods: At the end point of August 1, 2011, data from the CEREVANCE French national prospective cohort of auto-immune cytopenia were extracted, and a retrospective study of children who underwent rituximab for isolated AIHA was conducted. Patients with post bone marrow transplantation AIHA or underlying characterised primitive immune deficiency were excluded. Medical data and procedures were checked from patients' medical records. Complete remission (CR) was defined by haemoglobin count of more than 11 g/dL and reticulocytes count of less than 120 G/L, continuous complete remission (CCR) was defined as CR with no relapse or treatment for at least one year (Aladjidi et al, Haematologica 2011). Efficiency, safety and immunologic tests were evaluated after therapy. Results: Rituximab was administered in 42 children with isolated AIHA between 1999 and 2010. Associated immunologic disorders were noticed in 16 children before AIHA or during the follow-up. The median age at rituximab initiation was 5.4 years (0.1 to 17.5), with 15 children being younger than 2. The median duration of AIHA before rituximab was 6.2 months (0.1 to 74). The number of lines of treatments before rituximab varied from 1 (steroids alone for 23 children) to 5. Nineteen children received 4 weekly doses of 375 mg/m2, 6 received less than 4 courses and 7 received more than 4 courses (6 to 12). Rituximab allowed CR obtention in 85% of evaluable children, and all immunosuppressive treatment cessation in 67%. For failure or relapse, 21 children required 1 to 3 further lines of treatments. Systematic intravenous immunoglobulin (IVIg) substitution was administered in 55% of children, for a median duration of 18 months (1–140). Rituximab was well tolerated and severe neutropenia with sepsis happened in one child 6 months after rituximab. With a median follow-up of 3.6 years (0.2 to 11.3) after rituximab treatment, 22 children were in CCR, 7 children were in CR without treatment, 10 children were in CR with continuous treatment, 2 children were not in remission, 1 child died from associated giant cell hepatitis. Six children still required IgIV substitution at the last follow up, mainly younger and heavily treated children. Comparisons with rituximab efficiency and tolerance in chronic ITP and in AIHA/Evans syndrome are available from this national cohort. Conclusion: This collaborative national study confirms the excellent benefit-risk ratio of rituximab for childhood refractory AIHA. Early introduction could allow avoiding prolonged steroid treatments. However, the benefit of more than 4 courses was not demonstrated in this cohort. AIHA and chronic ITP are different diseases: the prolonged IVIg substitution required in 14% of children imposes to carefully search prior underlying immune deficiency before beginning an anti-CD20 treatment. Acknowledgments to the Association Française pour le Syndrome d'Evans (AFSE), the GIS-Institut des Maladies Rares-INSERM, and the French Health Ministry (Programme Hospitalier de Recherche Clinique 2005, Rare Diseases Plan 2007). Disclosures: No relevant conflicts of interest to declare.

Published
2011
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67. Relevance of a One-Year Maintenance Therapy with Interleukin-2 in the Treatment of Childhood Acute Myeloid Leukemia: Results from the French Multicenter, Phase III, Randomized Controlled Sfce Trial, ELAM02

Author

Petit, Arnaud, Ducassou, Stéphane, Leblanc, Thierry, Pasquet, Marlène, Rousseau, Alexandra, Ragu, Christine, Cachanado, Marine, Nelken, Brigitte, Bertrand, Yves, Michel, Gérard, Gandemer, Virginie, Cuccuini, Wendy, Dastugue, Nicole, Fenneteau, Odile, Lapillonne, Hélène, Auvrignon, Anne, Baruchel, André, and Leverger, Guy

Published
2014
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69. New Approach to Decipher GATA2 Deficiency Syndrome: Focus on the Recurrent GATA2R396Q Mutation

Author

Largeaud, Laetitia, Jamrog, Laura, Fregona, Vincent, Hamelle, Camille, Dufrechou, Stephanie, Prade, Naïs, Hebrard, Sylvie, Sellam, Esmaa, Bayet, Manon, Didier, Christine, Gerby, Bastien, Delabesse, Eric, Pasquet, Marlene, and Broccardo, Cyril

Abstract

Germline GATA2 mutations are identified in a complex disorder termed GATA2 deficiency syndrome. Clinical heterogeneous manifestations are associated with a wide diversity of molecular alterations (missense, frameshift, nonsense, intronic or splicing mutations). Truncating mutations decrease GATA2 expression suggesting a haploinsufficiency mechanism while molecular consequences of missense mutations are ill-known. We focus our research on the most recurrent GATA2mutation, GATA2R396Q.

Published
2021
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70. Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies

Author

Neven, Benedicte, Perot, Philippe, Bruneau, Julie, Pasquet, Marlene, Ramirez, Marie, Diana, Jean-Sebastien, Luzi, Stephanie, Corre-Catelin, Nicole, Chardot, Christophe, Despina Moshous, Leclerc Mercier, Stephanie, Mahlaoui, Nizar, Aladjidi, Nathalie, Le Bail, Brigitte, Lecuit, Marc, Bodemer, Christine, Molina, Thierry Jo, Blanche, Stephane, Eloit, Marc, DIAKITE, andrée, Integrative Biology of Emerging Infectious Diseases - - IBEID2010 - ANR-10-LABX-0062 - LABX - VALID, Service d'immuno-hématologie pédiatrique [CHU 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 de Référence Déficits Immunitaires Héréditaires (CEREDIH), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Biomics (plateforme technologique), Institut Pasteur [Paris] (IP), Découverte de Pathogènes - Pathogen Discovery, Biologie des Infections - Biology of Infection, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Pathologie [CHU Necker], Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de radiologie [CHU Necker], Investigation Clinique et d’Accès aux Ressources Biologiques (Plate-forme) - Clinical Investigation and Access to BioResources (ICAReB), Service de Chirurgie Viscérale Pédiatrique [Hôpital Necker-Enfants malades - APHP], Service de dermatologie [CHU Necker], Hématologie et cancérologie pédiatrique [CHU Bordeaux], CHU de Bordeaux Pellegrin [Bordeaux]-Centre d’Investigation Clinique de Bordeaux (CIC 1401)- Centre de Référence National des Cytopénies Auto-immunes de l'Enfant (CEREVANCE), CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire d'anatomie pathologique, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Université Paris Descartes - Paris 5 (UPD5), CHU Necker - Enfants Malades [AP-HP], Service des Maladies infectieuses et tropicales [CHU Necker], Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pathologie [CHU Necker], This work was supported by the Laboratoire d'Excellence 'Integrative Biology of Emerging Infectious Diseases' program (grant ANR-10-LABX-62-IBEID)., We acknowledge the patients and their families. We thank the staff of Investigation Clinique et Accès aux Ressources Biologiques (Institut Pasteur) for the management of clinical samples, Sarah Temmam for her guidance on phylogeny, and Christine Labreze and Franck Boralevi for taking care of patient 9. We also acknowledge Clinical Infectious Diseases for publishing our work under DOI: 10.1093/cid/ciw675, ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris], Pédiatrie - Hématologie, immunologie et oncologie [CHU Toulouse], Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), We acknowledge the patients and their families. We thank the staff of Investigation Clinique et Accès aux Ressources Biologiques (Institut Pasteur) for the management of clinical samples, Sarah Temmam for her guidance on phylogeny, and Christine Labreze and Franck Boralevi for taking care of patient 9., and 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)

Subjects
skin, MESH: Mutation, [SDV.IMM] Life Sciences [q-bio]/Immunology, [SDV]Life Sciences [q-bio], MESH: Skin/virology, MESH: Immunologic Deficiency Syndromes/complications, MESH: Immunologic Deficiency Syndromes/diagnosis, MESH: Spleen/virology, MESH: Capsid Proteins/genetics, MESH: Biopsy, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, vaccine, MESH: Reverse Transcriptase Polymerase Chain Reaction, MESH: Child, MESH: Granulomatous Disease, Chronic/etiology, granuloma, [SDV.MP] Life Sciences [q-bio]/Microbiology and Parasitology, [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, MESH: Rubella Vaccine/adverse effects, MESH: Granulomatous Disease, Chronic/diagnosis, MESH: Skin/pathology, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, MESH: Humans, rubella, MESH: Immunohistochemistry, MESH: Male, MESH: Rubella Vaccine/genetics, [SDV] Life Sciences [q-bio], [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, [SDV.IMM]Life Sciences [q-bio]/Immunology, spleen, MESH: Homeodomain Proteins/genetics, MESH: Immunologic Deficiency Syndromes/genetics, MESH: Female, MESH: Spleen/pathology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

Erratum in : Erratum. [Clin Infect Dis. 2017]; International audience; Persistence of rubella live vaccine has been associated with chronic skin granuloma in 3 children with primary immunode-ficiency. We describe 6 additional children with these findings, including 1 with visceral extension to the spleen.

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71. Long‐term outcome after allogeneic stem cell transplantation for GATA2 deficiency: An analysis of 67 adults and children from France and Belgium.

Author

Sicre de Fontbrune, Flore, Chevillon, Florian, Fahd, Mony, Desseaux, Kristell, Poiré, Xavier, Forcade, Edouard, Sterin, Arthur, Neven, Bénédicte, Gandemer, Virginie, Thepot, Sylvain, Garnier, Alice, Lioure, Bruno, Marcais, Ambroise, Nguyen‐Quoc, Stephanie, Tavitian, Suzanne, Vincent, Laure, Donadieu, Jean, Resche Riggon, Matthieu, Chevret, Sylvie, and Pasquet, Marlene

Subjects
*GRAFT versus host disease, *STEM cell transplantation, *HEMATOPOIETIC stem cells, *ACUTE myeloid leukemia, *HEMATOPOIETIC stem cell transplantation
Abstract

Summary Modalities and timing of haematopoietic stem cell transplant (HSCT) in patients with GATA2 deficiency are still subject to debate. On June 2022, 67 patients (median age 20.6 years) underwent a first allogeneic HSCT among 21 centres. Indications for HSCT were myelodysplastic syndrome (MDS) ≤5% blasts ± immunodeficiency (66%), MDS >5% blasts (15%), acute myeloid leukaemia (19%). Conditioning regimen was myeloablative in 85% and anti‐thymocyte globulins were used in 67%. The cumulative incidence (CInc) of acute graft versus host disease (GvHD) grade II–IV and III–IV at day 100 were 42% and 13%, and CInc of chronic and extensive chronic GvHD at 2 years were 42% and 23%. CInc of relapses was 3% and 11% at 1 and 5 years. Overall survival (OS) at 1 and 5 years was 83% and 72% (median follow‐up 5.6 years). The factors associated with worse OS in multivariable analysis were the year of HSCT, a history of excess blasts before transplant and peripheral blood stem cell (PBSC) grafts. Age at HSCT, non‐myeloablative conditioning and PBSC grafts were associated with increased non‐relapse mortality. In conclusion, bone marrow monitoring to identify clonal evolution and perform HSCT before the appearance of excess blast is mandatory. [ABSTRACT FROM AUTHOR]

Published
2024
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