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1. Molecular and clinicopathologic characterization of pediatric histiocytoses

Author: HELIAS-RODZEWICZ, Z, DONADIEU, Jean, TERRONES, Nathalie, BARKAOUI, Mohamed-Aziz, LAMBILLIOTTE, ANNE, MOSHOUS, DESPINA, Thomas, Caroline, AZAMOUSH, SABA, PASQUET, MARLENE, MANSUY, LUDOVIC, ALADJIDI, NATHALIE, JEZIORSKI, ERIC, MAREC-BERARDF, PERRINE, GILIBERT-YVET, MARION, SPIEGEL, ALEXANDRA, SAULTIER, PAUL, PELLIER, ISABELLE, PAGNIER, ANNE, PERTUISEL, SOPHIE, POIREE, MARYLINE, BODET, DAMIEN, MILLOT, FREDERIC, IFSAN, FLORENTINA, STEPHANN, JEAN-LOUIS, LERUSTRE, AMAURY, RIGAUD, CHARLOTTE, FILHON, BRUNO, CARAUSU, LIANA, REGUERRE, YVES, KIEFFER, ISABELLE, Brichard, Bénédicte, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, and UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique
Abstract: Molecular and clinicopathologic characterization of pediatric histiocytoses.
Published: 2023

2. Additional file 3 of Establishment of MOS-SF36 percentile ranks in the general youth French population

Author: Trognon, Arthur, Tinti, Emilie, Beaupain, Blandine, Donadieu, Jean, and Musiol, Michel
Subjects: Hardware_INTEGRATEDCIRCUITS
Abstract: Additional file 3: Internal consistency and reliability of the MOS-SF36 if an item is dropped.
Published: 2022
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3. Additive prognostic impact of gastrointestinal involvement in severe multisystem Langerhans cell histiocytosis

Author: Minkov, Milen, Pötschger, Ulrike, Thacker, Nirav, Astigarraga, Itziar, Braier, Jorge, Donadieu, Jean, Henter, Jan-Inge, Lehrnbecher, Thomas, Rodriguez-Galindo, Carlos, Sieni, Elena, Nanduri, Vasanta, Bos, Cor van den, Abla, Oussama, and LCH Study Group of the Histiocyte Society
Subjects: ddc:610
Abstract: Objective: To evaluate the prognostic impact of gastrointestinal involvement on the survival of children with Langerhans cell histiocytosis (GI-LCH) registered with the international clinical trials of the Histiocyte Society. Study design: This was a retrospective analysis of 2414 pediatric patients registered onto the consecutive trials DAL-HX 83, DAL-HX 90, LCH-I, LCH-II, and LCH-III. Results: Among the 1289 patients with single-system LCH, there was no single case confined to the GI tract; 114 of 1125 (10%) patients with multisystem LCH (MS-LCH) had GI-LCH at initial presentation. GI-LCH was significantly more common in children aged 2 years; P < .001) and in those with risk organ involvement (15% vs 6% in those without risk organ involvement; P < .001). The 5-year overall survival (OS) in patients without risk organ involvement was excellent irrespective of GI disease (98% vs 97% in patients with GI-LCH; P = .789). In patients with risk organ involvement, the 5-year OS was 51% in 70 patients with GI-LCH vs 72% in 394 patients without GI-LCH (P < .001). Conclusions: GI-LCH has an additive unfavorable prognostic impact in children with MS-LCH and risk organ involvement. The emerding need for more intensive or alternative treatments mandates prospective evaluation.
Published: 2021

4. Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

Author: Donadieu, Jean, Lamant, Marie, Fieschi, Claire, de Fontbrune, Flore Sicre, Caye, Aurélie, Ouachee, Marie, Beaupain, Blandine, Bustamante, Jacinta, Poirel, Hélène, Isidor, Bertrand, Van Den Neste, Eric, Neel, Antoine, Nimubona, Stanislas, Toutain, Fabienne, Barlogis, Vincent, Schleinitz, Nicolas, Leblanc, Thierry, Rohrlich, Pierre, Suarez, Felipe, Ranta, Dana, Chahla, Wadih Abou, Bruno, Bénédicte, Terriou, Louis, Francois, Sylvie, Lioure, Bruno, Ahle, Guido, Bachelerie, Françoise, Preudhomme, Claude, Delabesse, Eric, Cave, Hélène, Bellanné-Chantelot, Christine, Pasquet, Marlène, French GATA2 study group, UCL - SSS/DDUV/GEHU - Génétique, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Centre de génétique médicale UCL, and UCL - (SLuc) Service d'hématologie
Subjects: 0301 basic medicine, Adult, medicine.medical_specialty, Adolescent, GATA2 Deficiency, medicine.medical_treatment, JC virus, Hematopoietic stem cell transplantation, medicine.disease_cause, Infections, Article, 03 medical and health sciences, Young Adult, Germline mutation, Belgium, Internal medicine, Surveys and Questionnaires, Medicine, Humans, Mortality, Child, Immunodeficiency, Germ-Line Mutation, Juvenile myelomonocytic leukemia, business.industry, Progressive multifocal leukoencephalopathy, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, Hematology, Middle Aged, medicine.disease, Bone Marrow Failure, Prognosis, Leukemia, 030104 developmental biology, International Prognostic Scoring System, Child, Preschool, Hematologic Neoplasms, France, business, Infection
Abstract: Heterozygous germline GATA2 mutations strongly predispose to leukemia, immunodeficiency, and/or lymphoedema. We describe a series of 79 patients (53 families) diagnosed since 2011, made up of all patients in France and Belgium, with a follow up of 2249 patients/years. Median age at first clinical symptoms was 18.6 years (range, 0-61 years). Severe infectious diseases (mycobacteria, fungus, and human papilloma virus) and hematologic malignancies were the most common first manifestations. The probability of remaining symptom-free was 8% at 40 years old. Among the 53 probands, 24 had missense mutations including 4 recurrent alleles, 21 had nonsense or frameshift mutations, 4 had a whole-gene deletion, 2 had splice defects, and 2 patients had complex mutations. There were significantly more cases of leukemia in patients with missense mutations (n=14 of 34) than in patients with nonsense or frameshift mutations (n=2 of 28). We also identify new features of the disease: acute lymphoblastic leukemia, juvenile myelomonocytic leukemia, fatal progressive multifocal leukoencephalopathy related to the JC virus, and immune/inflammatory diseases. A revised International Prognostic Scoring System (IPSS) score allowed a distinction to be made between a stable disease and hematologic transformation. Chemotherapy is of limited efficacy, and has a high toxicity with severe infectious complications. As the mortality rate is high in our cohort (up to 35% at the age of 40), hematopoietic stem cell transplantation (HSCT) remains the best choice of treatment to avoid severe infectious and/or hematologic complications. The timing of HSCT remains difficult to determine, but the earlier it is performed, the better the outcome.
Published: 2018

5. How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome

Author: Badolato, Raffaele, Donadieu, Jean, Dotta, Laura, and Beaussant Cohen, Sarah
Subjects: 0301 basic medicine, Neutropenia, Primary Immunodeficiency Diseases, Immunology, Infections, Biochemistry, CXCR4, Hypogammaglobulinemia, 03 medical and health sciences, 0302 clinical medicine, Agammaglobulinemia, hemic and lymphatic diseases, medicine, Humans, Preschool, Child, Congenital Neutropenia, Myelokathexis, Bronchiectasis, business.industry, Immunologic Deficiency Syndromes, Autosomal dominant trait, Cell Biology, Hematology, medicine.disease, Biomarkers, Child, Preschool, Disease Progression, Female, Infection, Phenotype, Treatment Outcome, Warts, 030104 developmental biology, 030220 oncology & carcinogenesis, business, WHIM syndrome
Abstract: Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a genetic disease characterized by neutropenia, lymphopenia, susceptibility to infections, and myelokathexis, which describes degenerative changes of mature neutrophils and hyperplasia of bone marrow myeloid cells. Some patients present with hypogammaglobulinemia and/or refractory warts of skin and genitalia. Congenital cardiac defects constitute uncommon manifestations of the disease. The disorder, which is inherited as an autosomal dominant trait, is caused by heterozygous mutations of the chemokine receptor CXCR4. These mutations lead to an increased sensitivity of neutrophils and lymphocytes to the unique ligand CXCL12 and to an increased accumulation of mature neutrophils in the bone marrow. Despite greatly improved knowledge of the disease, therapeutic choices are insufficient to prevent some of the disease outcomes, such as development of bronchiectasis, anogenital dysplasia, or invasive cancer. The available therapeutic measures aimed at preventing the risk for infection in WHIM patients are discussed. We critically evaluate the diagnostic criteria of WHIM syndrome, particularly when WHIM syndrome should be suspected in patients with congenital neutropenia and lymphopenia despite the absence of hypogammaglobulinemia and/or warts. Finally, we discuss recent results of trials evaluating plerixafor, a selective antagonist of CXCR4, as a mechanism-oriented strategy for treatment of WHIM patients.
Published: 2017
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6. CUTANEOUS ADVERSE EVENTS IN CHILDREN TREATED WITH BRAF-INHIBITOR VEMURAFENIB FOR REFRACTORY BRAF (V600E) MUTATED LANGERHANS CELL HISTIOCYTOSIS: A EUROPEAN COHORT STUDY

Author: Tardieu, Mathilde, Duvert Lehembre, Sophie, Larabi, Islam Amine, Visser, Johannes, Hutter, Caroline, Taly, Valérie, Collins, Matthew, JC., Alvarez, J.F., Emile, Héritier, Sébastien, Donadieu, Jean, Centre Hospitalier Universitaire [Grenoble] (CHU), Hôpital Raymond Poincaré [AP-HP], Cambridge University Hospitals - NHS (CUH), University of Cambridge [UK] (CAM), Medizinische Universität Wien = Medical University of Vienna, Médecine Personnalisée, Pharmacogénomique, Optimisation Thérapeutique (MEPPOT - U1147), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre for Ultrahigh Bandwidth Devices for Optical Systems (CUDOS), The University of Sydney, CHU Trousseau [APHP], 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), and TALY, Valerie
Subjects: [SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2019

7. VEMURAFENIB IN CHILDREN WITH REFRACTORY LCH: 53 PATIENTS TREATED IN EU AND LEBANON

Author: Donadieu, Jean, Larabi, Islam Amine, Tardieu, Mathilde, Visser, Johannes, Hutter, Caroline, Sieni, Elena, Kabbara, Nabil, Barkaoui, Mohamed, Milne, Paul, Haroche, Julien, Taly, Valérie, Collinson, Matthew, Alvarez, Jean-Claude, J.F., Emile, Heritier, Sébastien, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie (BECCOH), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, Service de Dermatologie [CHU de Grenoble site Nord], CHU de Grenoble site Nord, Department of Paediatric Oncology and Haematology [Cambridge, UK], University of Cambridge [UK] (CAM), St Anna Kinderspital [Vienna Austria], Dipartimento di Oncoematologia Pediatrica [Firenze, Italy], Azienda Ospedaliero Universitaria A. Meyer [Firenze, Italy], Division Pediatric Hematology Oncology [Beirut, Lebanon], Université Saint-Joseph de Beyrouth (USJ), Pediatric Hematology Oncology [Beirut, Lebanon], Rafic Hariri University Hospital [Beirut, Lebanon], Institute of Cellular Medicine [Newcastle], Newcastle University [Newcastle], Service de médecine interne [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), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), 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)-Sorbonne Université (SU), Saint Anna Children's Hospital [Vienne] = St Anna Kinderspital (St. Anna Children's Hospital), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), and TALY, Valerie
Subjects: [SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2019
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8. Diabetes Mellitus, Extreme Insulin Resistance, and Hypothalamic-Pituitary Langerhans Cells Histiocytosis

Author: Sollier, Mathilde, Halbron, Marine, Donadieu, Jean, Idbaih, Ahmed, Cohen Aubart, Fleur, Vigouroux, Corinne, Auclair, Martine, Bourron, Olivier, Bastin, Marie, Béra, Géraldine, Touraine, Philippe, Young, Jacques, Mosbah, Héléna, Hartemann, Agnès, Andreelli, Fabrizio, and Amouyal, Chloé
Subjects: Article Subject
Abstract: Background. Langerhans Cell Histiocytosis (LCH) is a rare inflammatory neoplasm characterized by an infiltration of organs by Langerin + (CD207+) and CD1a+ histiocytes. Diabetes insipidus is a frequent manifestation of the disease, while diabetes mellitus is very rare. We report the first case of a 20-year-old man suffering from hypothalamopituitary histiocytosis and diabetes mellitus with serum anti-insulin receptor antibodies. Case Presentation. A 20-year-old patient was admitted for the evaluation of growth delay and hyperphagia. HbA1c level and fasting blood glucose were in the normal range. The diagnosis of hypothalamopituitary histiocytosis was based on histological features after biopsy of a large suprachiasmatic lesion identified on magnetic resonance imaging (MRI). Association of vinblastine and purinethol was started followed by a second-line therapy by cladribine. During the follow-up, the patient was admitted for recurrence of hyperglycemic states and extreme insulin resistance. The screening for serum anti-insulin receptor antibodies was positive. Each episode of hyperglycemia appeared to be correlated with tumoral activity and increase in serum anti-insulin receptor antibodies and appeared to be improved when the disease was controlled by chemotherapy. Conclusion. We report the first description of a hypothalamopituitary histiocytosis associated with serum anti-insulin receptor antibodies, extreme insulin resistance, and diabetes. Parallel evolution of glucose levels and serum anti-insulin receptor antibodies seemed to be the consequence of immune suppressive properties of cladribine.
Published: 2019
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9. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)

Author: Olson, Heather E., Jean-Marcais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R. F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J., Burglen, Lydie, Lesca, Gaetan, Cho, Megan T., Smith, Lacey A., Sheidley, Beth R., El Achkar, Christelle Moufawad, Pearl, Phillip L., Poduri, Annapurna, Skraban, Cara M., Tarpinian, Jennifer, Nesbitt, Addie I., van de Putte, Dietje E. Fransen, Ruivenkamp, Claudia A. L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A., Waxler, Jessica L., Wierenga, Klaas J., Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M., Nava, Caroline, Riviere, Jean-Baptiste, Vitobello, Antonio, Mau-Them, Frerdric Tran, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H., and Schuurs-Hoeijmakers, Janneke
Published: 2018

10. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Author: Olson, Heather, Jean-Marçais, Nolwenn, Yang, Edward, Héron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul, Bijlsma, Emilia, Krock, Bryan, Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R.F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke, Burglen, Lydie, Lesca, Gaetan, Cho, Megan, Smith, Lacey, Sheidley, Beth, Moufawad El Achkar, Christelle, Pearl, Phillip, Poduri, Annapurna, Skraban, Cara, Tarpinian, Jennifer, Nesbitt, Addie, Fransen van de Putte, Dietje, Ruivenkamp, Claudia A.L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David, Waxler, Jessica, Wierenga, Klaas, DDD Study,, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri, C4RCD Research Group,, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frederic, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan, Schuurs-Hoeijmakers, Janneke, Brunner, Han, Keren, Boris, Thevenon, Julien, Faivre, Laurence, Thomas, Gary, Thauvin-Robinet, Christel, Department of Neurology, Children's Hospital [Boston], Boston Children's Hospital, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), FHU TRANSLAD (CHU de Dijon), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University Medical Center Groningen [Groningen] (UMCG), Department of Clinical Genetics (Leiden University Medical Center), Leiden University Medical Center (LUMC), Children’s Hospital of Philadelphia (CHOP ), GeneDx [Gaithersburg, MD, USA], Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), GRC ConCer-LD, Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique [HCL Groupement Hospitalier Est], Groupement hospitalier Lyon-Est, Centre de recherche en neurosciences de Lyon (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Pathology and Laboratory Medicine [Philadelphia, PA, USA], University of Pennsylvania [Philadelphia]-Perelman School of Medicine, University of Pennsylvania [Philadelphia], Department of Clinical Genetics [Leiden, the Netherlands], Service de Neurologie Pédiatrique [CHU Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Département d'Epilepsie, Sommeil et Neurophysiologie Pédiatrique [HCL, Lyon], Hospices Civils de Lyon (HCL), Service de Radiologie [Hôpital Femme Mère Enfant - HCL], Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Department ofMicrobiology and Molecular Genetics ( University of Pittsburgh), University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), Department of Human Genetics [Nijmegen], Radboud University Medical Center [Nijmegen], Radboud Institute for Molecular Life Sciences [Nijmegen, the Netherlands], Donders Institute for Brain, Cognition and Behaviour, Radboud university [Nijmegen], University of Pittsburgh Cancer Institute, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, and MUMC+: DA Klinische Genetica (5)
Subjects: Male, 0301 basic medicine, Pathology, PACS-2, Vesicular Transport Proteins, PHENOTYPE, Bioinformatics, DISEASE, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Epilepsy, 0302 clinical medicine, Missense mutation, Global developmental delay, Age of Onset, Child, Genetics (clinical), Epileptic encephalopathy, APOPTOSIS, 3. Good health, cerebellar dysgenesis, Mutation, Missense/genetics, intellectual disability, Child, Preschool, Epilepsy, Generalized, Female, PACS2, CLINICAL EPILEPSY, medicine.medical_specialty, Heterozygote, Generalized/genetics, PROTEINS, Genetic counseling, Mutation, Missense, Missense/genetics, Neonatal onset, Biology, DIAGNOSIS, Vesicular Transport Proteins/genetics, Facial dysmorphism, 03 medical and health sciences, Dysgenesis, All institutes and research themes of the Radboud University Medical Center, Cerebellar Diseases, Report, MENDELIAN DISORDERS, Genetics, medicine, Humans, Generalized epilepsy, Preschool, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Cerebellar Diseases/genetics, business.industry, MUTATIONS, Infant, Newborn, Correction, Infant, Facies, Newborn, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, epilepsy, Autism, business, Epilepsy, Generalized/genetics, 030217 neurology & neurosurgery
Abstract: International audience; Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgenesis, and facial dysmorphism. Mixed focal and generalized epilepsy occurred in the neonatal period, controlled with difficulty in the first year, but many improved in early childhood. PACS2 is an important PACS1 paralog and encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation. Both proteins harbor cargo(furin)-binding regions (FBRs) that bind cargo proteins, sorting adaptors, and cellular kinase. Compared to the defined PACS1 recurrent variant series, individuals with PACS2 variant have more consistently neonatal/early-infantile-onset epilepsy that can be challenging to control. Cerebellar abnormalities may be similar but PACS2 individuals exhibit a pattern of clear dysgenesis ranging from mild to severe. Functional studies demonstrated that the PACS2 recurrent variant reduces the ability of the predicted autoregulatory domain to modulate the interaction between the PACS2 FBR and client proteins, which may disturb cellular function. These findings support the causality of this recurrent de novo PACS2 heterozygous missense in DEEs with facial dysmorphim and cerebellar dysgenesis.
Published: 2018
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11. Outcome after failure of allogeneic hematopoietic stem cell transplantation in children with acute leukemia: a study by the société Francophone de greffe de moelle et de thérapie cellulaire (SFGM-TC)

Author: Gilardin, Laurent, Delignat, Sandrine, Peyron, Ivan, Ing, Mathieu, Lone, Yu-Chun, Gangadharan, Bagirath, Michard, Baptiste, Kherabi, Yousra, Sharma, Meenu, Pashov, Anastas, Toutirais, Olivier, Loiseau, Pascale, Veyradier, Agnès, Kaveri, Srini, Maillere, Bernard, Coppo, Paul, Lacroix-Desmazes, Sébastien, Chatillon, Jean-François, Hamieh, Mohamad, Bayeux, Florence, Abasq, Claire, Fauquembergue, Emilie, Drouet, Aurélie, Guisier, Florian, Latouche, Jean-Baptiste, Musette, Philippe, Coignard-Biehler, Hélène, Mahlaoui, Nizar, Pilmis, Benoit, Barlogis, Vincent, Brosselin, Pauline, de Vergnes, Nathalie, Debré, Marianne, Malphettes, Marion, Frange, Pierre, Catherinot, Emilie, Pellier, Isabelle, Durieu, Isabelle, Perlat, Antoinette, Royer, Bruno, Le Quellec, Alain, Jeziorski, Eric, Fischer, Alain, Lortholary, Olivier, Aaron+, Laurent, Adoue, Daniel, Aguilar, Claire, Aladjidi, Nathalie, Alcaïs, Alexandre, Amoura, Zahir, Arlet, Philippe, Armari-Alla, Corinne, Bader-Meunier, Brigitte, Bayart, Sophie, Bienvenu, Boris, Blanche, Stéphane, Bodet, Damien, Bonnotte, Bernard, Borie, Raphael, Boutard, Patrick, Briandet, Claire, Brion, Jean-Paul, Brouard, Jacques, Cohen-Beaussant, Sarah, Costes, Laurence, Couderc, Louis-Jean, Cougoul, Pierre, Courteille, Virginie, de Saint Basile, Geneviève, Devoldere, Catherine, Deville, Anne, Donadieu, Jean, Doré, Eric, Dulieu, Fabienne, Edan, Christine, Entz-Werlé, Natacha, Fieschi, Claire, Forestier, Amandine, Fouyssac, Fanny, Gajdos, Vincent, Galicier, Lionel, Gandemer, Virginie, Gardembas, Martine, Gaud, Catherine, Guillerm, Gaelle, Hachulla, Eric, Hamidou, Mohamed, Hermine, Olivier, Hoarau, Cyrille, Humbert, Sebastien, Jaccard, Arnaud, Jacquot, Serge, Jais, Jean-Philippe, Jaussaud, Roland, Jeandel, Pierre-Yves, Kebaili, Kamila, Korganow, Anne-Sophie, Lambotte, Olivier, Lanternier, Fanny, Larroche, Claire, Lascaux, Anne-Sophie, Le Moigne, Emmanuelle, Le Moing, Vincent, Lebranchu, Yvon, Lecuit, Marc, Lefèvre, Guillaume, Lemal, Richard, Te, Valérie Li Thiao, Marie-Cardine, Aude, Silva, Nicolas Martin, Masseau, Agathe, Massot, Christian, Mazingue, Françoise, Merlin, Etienne, Monlibert, Béatrice, Monpoux, Fabrice, Moshous, Despina, Mouthon, Luc, Munzer, Martine, Neven, Bénédicte, Nove-Josserand, Raphaëlle, Oksenhendler, Eric, Ouachée-Chardin, Marie, Oudot, Caroline, Pagnier, Anne, Pasquali, Jean-Louis, Pasquet, Marlène, Perel, Yves, Picard, Capucine, Piguet, Christophe, Plantaz, Dominique, Provot, Johan, Quartier, Pierre, Rieux-Laucat, Frédéric, Roger, Pierre-Marie, Rohrlich, Pierre-Simon, Rubié, Hervé, Salle, Valéry, Sarrot-Reynauld, Françoise, Servettaz, Amélie, Stephan, Jean-Louis, Schleinitz, Nicolas, Suarez, Felipe, Swiader, Laure, Taque, Sophie, Thomas, Caroline, Tournilhac, Olivier, Thumerelle, Caroline, Tron, François, Viallard, Jean-François, Roux, Clément, Tifratene, K, Socie, G., Galambrun, C., Bertrand, Yves, Rialland, F., Jubert, C, Pochon, C, Paillard, C., Sirvent, A., Nelken, B., Vannier, Jean-Pierre, Freycon, C, Beguin, Y, Raus, N, Yakoub-Agha, I., Mohty, M., Dalle, J-H, Michel, Gérard, Pradier, C., Peffault de Latour, R., Rohrlich, P-S, Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), 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)-Sorbonne Université (SU), 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), Greffes d'Epitheliums et Regulation de l'Activation Lymphocytaire, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôptaux universitaires de Strasbourg (HUS), CHU Strasbourg, Institut Stephan Angeloff, Réseau International des Instituts Pasteur (RIIP), Immunogénétique humaine, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hématologie Biologique [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche des Cordeliers (CRC (UMR_S 872)), 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)-Centre National de la Recherche Scientifique (CNRS), Département d'Ingénierie et d'Etudes des Protéines, Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Normandie Université (NU)-Normandie Université (NU), Service de dermatologie (Dermato - BREST), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Service de Dermatologie [Rouen], Hôpital Charles Nicolle [Rouen], Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Centre d'infectiologie Necker-Pasteur [CHU Necker], Institut Pasteur [Paris] (IP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'hématologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'immuno-hématologie pédiatrique [CHU Necker], Service d'Immunopathologie [Hôpital Saint-Louis, Paris], Université Paris Diderot - Paris 7 (UPD7)-Hopital Saint-Louis [AP-HP] (AP-HP), Unité d'Immunologie Hématologie et Rhumatologie Pédiatrique [Necker, Paris], Hôpital Foch [Suresnes], Innate Immunity and Immunotherapy (CRCINA-ÉQUIPE 7), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), 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), Service de Médecine Interne - Centre Hospitalier Lyon Sud, Hospices Civils de Lyon (HCL)-Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Service de Médecine interne et immunologie clinique [Rennes] = internal medicine and clinical immunology [Rennes], CHU Pontchaillou [Rennes], CHU Amiens-Picardie, 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), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Collège de France - Chaire Médecine expérimentale (A. Fischer), Collège de France (CdF (institution)), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Département de Pédiatrie et maladies infectieuses [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, Génétique Humaine des Maladies Infectieuses (Inserm U980), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre d'Immunologie et des Maladies Infectieuses (CIMI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service Médecine Interne et immunologie clinique [CHU Toulouse], Pôle Maladies de l'appareil digestif [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital de la Tronche, Département d'Immunologie, hématologie et rhumatologie pédiatriques [Hôpital Necker-Enfants malades - APHP], Hématogoie pédiatrique, hôpital Sud, Laboratoire de Mathématiques Nicolas Oresme (LMNO), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-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), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), 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], Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), 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, 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), Service d'Hémato-oncologie Pédiatrique [CHU Nice], Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Trousseau [APHP], 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, Département d'Oncologie Pédiatrique [CHU Hautepierre, Strasbourg], Hôpital de Hautepierre [Strasbourg], 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), 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), Service de médecine de l'enfant et de l'adolescent [CHU Rennes], Apoptosis and Tumor Progression (CRCINA-ÉQUIPE 9), Service Hématologie, Hôpital Morvan [Brest]-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), 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), Service de médecine interne [Nantes], Université de Nantes (UN)-Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Cellules Dendritiques, Immunomodulation et Greffes, Université de Tours (UT), Ecole Polytechnique Fédérale de Lausanne (EPFL), Physiologie Moléculaire de la Réponse Immune et des Lymphoproliférations (PMRIL), 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, Service d'informatique médicale et biostatistiques [CHU Necker], Université de Reims Champagne-Ardenne (URCA), Institut d’Hémato-Oncologie Pédiatrique, Immunologie et chimie thérapeutiques (ICT), Cancéropôle du Grand Est-Centre National de la Recherche Scientifique (CNRS), service de Médecine Interne et d'Immunologie Clinique [AP-HP Hôpital Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Hôpital Bicêtre, Assistance Publique - Hôpitaux de Paris (AP-HP), Internal Medicine, Paris, Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), Recherches Translationnelles sur le VIH et les maladies infectieuses endémiques et émergentes (TransVIHMI), Institut de Recherche pour le Développement (IRD)-Université de Yaoundé I-Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service de Néphrologie - Hypertension Artérielle Dialyse - Transplantation, Catalysis, Synthesis of Biomolecules and Sustainable Development (CSB2D), Centre National de la Recherche Scientifique (CNRS), Role of intra-Clonal Heterogeneity and Leukemic environment in ThErapy Resistance of chronic leukemias (CHELTER), Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Unité de Biostatistique et de Recherche Clinique (UBRC), Dept of Physiology, McGill University = Université McGill [Montréal, Canada], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut Jean Godinot [Reims], UNICANCER, Service d'Immunopathologie Clinique, 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 de Pédiatrie médicale - Spécialités médicales [CHU Limoges], CHU Limoges, Service Immuno Hémato-Onco Pédiatrique, Sercice Hématologie, immunologie et oncologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service Hématologie Infantile, Immunogenetics of pediatric autoimmune diseases (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), 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), Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'Hématologie et d'Oncologie pédiatrique, Service d'hématologie clinique, Hôpital Hôtel-Dieu [Paris], Service de pneumologie pédiatrique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Protéines de défense des réponses immune et inflammatoire : identification, régulation et rôles physiopathologiques, Médecine Interne, CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Service de rhumatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Service de Pediatrie Debrousse, Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de Combustion, Aérothermique, Réactivité et Environnement (ICARE), Université d'Orléans (UO)-Centre National de la Recherche Scientifique (CNRS)-Institut des Sciences de l'Ingénierie et des Systèmes (INSIS - CNRS), Service d'Hématologie et d'Oncologie Médicale, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Lapeyronie, Service d'hémato-immuno-oncologie pédiatrique [Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Etablissement français du sang [Poitiers] (EFS), Public Health Department, Hôpital de l'Archet, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7), École pratique des hautes études (EPHE)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), 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), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Antoine Béclère, Service d'hématologie clinique et de thérapie cellulaire [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Saint-Antoine [APHP], Hôpital Charles Nicolle [Rouen]-CHU Rouen, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Université Paris Diderot - Paris 7 (UPD7)-CHU Saint Louis [APHP], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Innate immunity and Immunotherapy (CRCINA - Département INCIT - Equipe 7), Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers (CRCINA), Université d'Angers (UA)-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 de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Université d'Angers (UA)-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 de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Service de médecine interne, Hôpital Universitaire d'Amiens, CHU Toulouse [Toulouse], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Centre d'Immunologie et de Maladies Infectieuses (CIMI), Service de médecine interne, hôpital Purpan, Hôpital Sud, 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), 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, Service d’oncologie hématologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], 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), Service de médecine de l'enfant et de l'adolescent, CHU Pontchaillou [Rennes]-Hôpital Sud, 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), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Hôpital Morvan [Brest], Lille Inflammation Research International Center (LIRIC), Université de Tours, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Recherches Translationnelles sur le VIH et les maladies infectieuses (TransVIHMI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche pour le Développement (IRD)-Université Montpellier 1 (UM1)-Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Universtié Yaoundé 1 [Cameroun]-Université de Montpellier (UM), CHU Toulouse [Toulouse]-Hôpital de Rangueil, Institute of Chemistry for Life and Health Sciences (i-CLEHS), Role of intra-Clonal Heterogeneity and Leukemic environment in ThErapy Resistance of chronic leukemias - Clermont Auvergne (CHELTER), Université Clermont Auvergne (UCA), McGill University, Institut Jean Godinot, CRLCC Jean Godinot, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Hématologie pédiatrique, 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 National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA), Unité d'Hémato-Oncologie, Hôpital des Enfants, CHU Saint-Etienne, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Université d'Orléans (UO)-Centre National de la Recherche Scientifique (CNRS)-Institut des Sciences de l'Ingénierie et des Systèmes (INSIS), CHU Saint-Antoine [APHP], École pratique des hautes études (EPHE), Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), Université Paris Descartes - Paris 5 (UPD5)-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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Institut Pasteur [Paris]-CHU Necker - Enfants Malades [AP-HP], 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), 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), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Chaire Médecine expérimentale (A. Fischer), Centre National de la Recherche Scientifique (CNRS)-Université de Caen Normandie (UNICAEN), 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 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, 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), 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), CHU Pontchaillou [Rennes]-hôpital Sud, Recherches Translationnelles sur le VIH et les maladies infectieuses endémiques er émergentes (TransVIHMI), Université Cheikh Anta Diop [Dakar, Sénégal] (UCAD)-Institut de Recherche pour le Développement (IRD)-Université de Yaoundé I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Université Montpellier 1 (UM1), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), 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, and Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)
Subjects: Oncology, medicine.medical_specialty, Palliative care, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Hematopoietic stem cell transplantation, Donor lymphocyte infusion, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Transplantation, Homologous, Treatment Failure, Child, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Transplantation, Acute leukemia, Chemotherapy, Leukemia, business.industry, Palliative Care, Hematopoietic Stem Cell Transplantation, Hematology, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Donor Lymphocytes, Leukemia, Biphenotypic, Acute, 3. Good health, Surgery, Survival Rate, Leukemia, Myeloid, Acute, Treatment Outcome, Lymphocyte Transfusion, 030220 oncology & carcinogenesis, Acute Disease, Disease Progression, [SDV.IMM]Life Sciences [q-bio]/Immunology, business, 030215 immunology
Abstract: Allogeneic hematopoietic stem cell transplantation (SCT) contributes to improved outcome in childhood acute leukemia (AL). However, therapeutic options are poorly defined in the case of post-transplantation relapse. We aimed to compare treatment strategies in 334 consecutive children with acute leukemia relapse or progression after SCT in a recent 10-year period. Data could be analyzed in 288 patients (157 ALL, 123 AML and 8 biphenotypic AL) with a median age of 8.16 years at transplantation. The median delay from first SCT to relapse or progression was 182 days. The treatment consisted of chemotherapy alone (n=108), chemotherapy followed by second SCT (n=70), supportive/palliative care (n=67), combination of chemotherapy and donor lymphocyte infusion (DLI; n=30), or isolated reinfusion of donor lymphocytes (DLI; n=13). The median OS duration after relapse was 164 days and differed according to therapy: DLI after chemotherapy=385 days, second allograft=391 days, chemotherapy=174 days, DLI alone=140 days, palliative care=43 days. A second SCT or a combination of chemotherapy and DLI yielded similar outcome (hazard ratio (HR)=0.85, P=0.53) unlike chemotherapy alone (HR=1.43 P=0.04), palliative care (HR=4.24, P
Published: 2017
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12. Additional file 1: of New somatic BRAF splicing mutation in Langerhans cell histiocytosis

Author: Héritier, Sébastien, Hélias-Rodzewicz, Zofia, Rikhia Chakraborty, Sengal, Amel, Bellanné-Chantelot, Christine, Thomas, Caroline, Moreau, Anne, Fraitag, Sylvie, Allen, Carl, Donadieu, Jean, and Jean-François Emile
Abstract: Supplemental methods and data. (DOCX 904 kb)
Published: 2017
Full Text: View/download PDF

13. Dialogic interaction and psychosocial-cognitive profile in Shwachman-Diamond syndrome

Author: Batt, Martine, Canton, Marie, Pastore, Oriane, Bocéréan, Christine, Trognon, Alain, Verhaegen, Frédéric, Fouyssac, Fanny, Raffo, Emmanuel, Guiot, Emeline, Bonneton, Marjorie, Beaupain, Blandine, Donadieu, Jean, Laboratoire de psychologie de l'interaction et des relations intersubjectives (INTERPSY), Université de Lorraine (UL), Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Hôpital Armand Trousseau [AP-HP] (AP-HP), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SHS.PSY]Humanities and Social Sciences/Psychology
Abstract: International audience; The main objective of this pilot study is to put forth innovative hypotheses on the neuropsychological profile of French children and adolescents with Shwachman-Diamond syndrome (SDS), a rare genetic disease. It also assesses the pragmatic abilities, by means of discursive comprehension tests of three non-literal forms of indirect requests specifically designed for this population. The originality of this work lies in the analysis of behavioural profiles and in the study of higher cognitive functions of 7 SDS children. In addition to their intellectual disability, over half of SSD children present socio-cognitive difficulties and all exhibit behavioural (notably social adaptation) and executive complaints. The results highlight specific performance profiles within the various tests assessing social cognition. The hypothesis of a specific impairment of certain aspects of the theory of mind is thus raised.; L’objectif principal de cette étude pilote est d’avancer des hypothèses novatrices quant au profil neuropsychologique des enfants et adolescents français porteurs du Syndrome de Shwachman-Diamond (SSD), maladie génétique rare. Il s’agit également d’évaluer les capacités métapragmatiques à partir d'épreuves de compréhension de demandes en situation de dialogue. Ces demandes sont présentées sous trois formes non littérales spécifiquement aménagées pour cette population. L’originalité de ce travail réside ainsi dans l’analyse des profils comportementaux et dans l’étude des fonctions cognitives supérieures de 7 enfants SSD. Au-delà de l’affaiblissement intellectuel observé pour notre échantillon, plus de la moitié des enfants SSD présentent des difficultés de cognition sociale et tous manifestent des problèmes comportementaux (notamment d’adaptation sociale) et exécutifs. Les résultats obtenus mettent en évidence des profils de performances originaux au sein des différentes épreuves évaluant la cognition sociale. L’hypothèse d’une atteinte spécifique de certains aspects de la théorie de l’esprit est ainsi soulevée.
Published: 2017

14. Profil psychosociocognitif et dialectique du syndrome de Shwachman-Diamond. Enfance, 2, 153-170

Author: Batt, Martine, Canton, M., Pastore, Oriane, Trognon, Alain, Bocerean, Christine, Verhaegen, Frédéric, Fouyssac, Fanny, Raffo, E., Donadieu, Jean, Laboratoire de psychologie de l'interaction et des relations intersubjectives (INTERPSY), Université de Lorraine (UL), Analyse et Traitement Informatique de la Langue Française (ATILF), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Génétique Clinique Pédiatrique [CHRU Nancy], Service d’oncologie hématologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Sorbonne Université
Subjects: [SCCO.PSYC]Cognitive science/Psychology, [SHS.PSY]Humanities and Social Sciences/Psychology, [SCCO.LING]Cognitive science/Linguistics, [SHS.LANGUE]Humanities and Social Sciences/Linguistics, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2017

15. Altered chemotactic response to CXCL12 in patients carrying GATA2 ă mutations

Author: Maciejewski-Duval , Anna, Meuris , Floriane, Bignon , Alexandre, Aknin , Marie-Laure, Balabanian , Karl, Faivre , Laurence, Pasquet , Marlène, Barlogis , Vincent, Fieschi , Claire, Bellanné-Chantelot , Christine, Donadieu , Jean, Schlecht-Louf , Geraldine, Marin-Esteban , Viviana, Bachelerie , Françoise, Régulation de la transcription et maladies génétiques (RTMG), Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Recherche sur le Médicament et l'Innovation Thérapeutique (LabEX LERMIT), Institut National de la Santé et de la Recherche Médicale (INSERM), Cytokines, chimiokines et immunopathologie, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Hématologie pédiatrique, CHU Toulouse [Toulouse], Pédiatrie et oncologie pédiatrique [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Différenciation des cellules B, hémopathies, lymphoïdes et déficit de l'immunité humorale, Université Paris Diderot - Paris 7 (UPD7), Service d'immunologie clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [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), Registre français des neutropénies chroniques sévères, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Régulation de la transcription et maladies génétiques ( RTMG ), Centre National de la Recherche Scientifique ( CNRS ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire de Recherche sur le Médicament et l'Innovation Thérapeutique ( LabEX LERMIT ), Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Génétique des Anomalies du Développement ( GAD ), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne ( UB ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Université Paris Diderot - Paris 7 ( UPD7 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Auquier, Pascal, 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), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), and Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]
Subjects: [SHS.PSY] Humanities and Social Sciences/Psychology, [ SHS.PSY ] Humanities and Social Sciences/Psychology, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, [ SDV.MHEP.PSM ] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [ SHS.ECO ] Humanities and Social Sciences/Economies and finances, [SHS.PSY]Humanities and Social Sciences/Psychology, [ SDV.SPEE ] Life Sciences [q-bio]/Santé publique et épidémiologie, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [SHS.ECO] Humanities and Social Sciences/Economics and Finance, [SHS.ECO]Humanities and Social Sciences/Economics and Finance, Quality
Abstract: International audience; GATA2 deficiency formerly described as MonoMAC syndrome; dendritic ă cells, monocytes, B cells, and natural killer cell deficiency; familial ă myelodysplastic syndrome/acute myeloid leukemia; or Emberger syndrome ă encompasses a range of hematologic and nonhematologic anomalies, mainly ă characterized by monocytopenia, B lymphopenia, natural killer cell ă cytopenia, neutropenia, immunodeficiency, and a high risk of developing ă acute myeloid leukemia. Herein, we present 7 patients with GATA2 ă deficiency recruited into the French Severe Chronic Neutropenia ă Registry, which enrolls patients with all kinds of congenital ă neutropenia. We performed extended immunophenotyping of their whole ă blood lymphocyte populations, together with the analysis of their ă chemotactic responses. Lymphopenia was recorded for B and CD4(+) T cells ă in 6 patients. Although only 3 patients displayed natural killer cell ă cytopenia, the CD56(bright) natural killer subpopulation was nearly ă absent in all 7 patients. Natural killer cells from 6 patients showed ă decreased CXCL12/CXCR4-dependent chemotaxis, whereas other lymphocytes, ă and most significantly B lymphocytes, displayed enhanced CXCL12induced ă chemotaxis compared with healthy volunteers. Surface expression of CXCR4 ă was significantly diminished in the patients' natural killer cells, ă although the total expression of the receptor was found to be equivalent ă to that of natural killer cells from healthy individual controls. ă Together, these data reveal that GATA2 deficiency is associated with ă impaired membrane expression and chemotactic dysfunctions of CXCR4. ă These dysfunctions may contribute to the physiopathology of this ă deficiency by affecting the normal distribution of lymphocytes and thus ă potentially affecting the susceptibility of patients to associated ă infections.
Published: 2016

16. B–helper neutrophils stimulate immunoglobulin diversification and production in the marginal zone of the spleen

Author: Puga, Irene, Cols, Montserrat, Barra, Carolina M, He, Bing, Cassis, Linda, Gentile, Maurizio, Comerma, Laura, Chorny, Alejo, Shan, Meimei, Xu, Weifeng, Magri, Giuliana, Knowles, Daniel M, Tam, Wayne, Chiu, April, Bussel, James B, Serrano, Sergi, Lorente, José Antonio, Bellosillo, Beatriz, Lloreta, Josep, Juanpere, Nuria, Alameda, Francesc, Baró, Teresa, de Heredia, Cristina Díaz, Torán, Núria, Català, Albert, Torrebadell, Montserrat, Fortuny, Claudia, Cusí, Victoria, Carreras, Carmen, Diaz, George A, Blander, J Magarian, Farber, Claire-Michèle, Silvestri, Guido, Cunningham-Rundles, Charlotte, Calvillo, Michaela, Dufour, Carlo, Notarangelo, Lucia Dora, Lougaris, Vassilios, Plebani, Alessandro, Casanova, Jean-Laurent, Ganal, Stephanie C, Diefenbach, Andreas, Aróstegui, Juan Ignacio, Juan, Manel, Yagüe, Jordi, Mahlaoui, Nizar, Donadieu, Jean, Chen, Kang, and Cerutti, Andrea
Published: 2011
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17. Efficience intellectuelle chez les enfants porteurs du syndrome de shwachman-Diamond : revue de littérature et prospectives de recherche

Author: Canton, M., Pastore, Oriane, Trognon, Alain, Bocerean, Christine, Fouyssac, Fanny, Raffo, E., Donadieu, Jean, Batt, Martine, Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), Université de Nantes (UN)-Université de Nantes (UN), Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Laboratoire de psychologie de l'interaction et des relations intersubjectives (INTERPSY), Université de Lorraine (UL), Analyse et Traitement Informatique de la Langue Française (ATILF), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Service de Médecine Infantile I [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Génétique Clinique Pédiatrique [CHRU Nancy], Développement, Adaptation et Handicap. Régulations cardio-respiratoires et de la motricité (DevAH), Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], CHU Trousseau [APHP], 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 de référence des déficits Immunitaires Héréditaires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Développement, Adaptation et Handicap. Régulations cardio-respiratoires et de la motricité. (DevAH), Service d’oncologie hématologie pédiatrique [CHU Trousseau], and Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP]
Subjects: [SCCO.PSYC]Cognitive science/Psychology, [SHS.PSY]Humanities and Social Sciences/Psychology, [SCCO.LING]Cognitive science/Linguistics, [SHS.LANGUE]Humanities and Social Sciences/Linguistics, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2016

18. Neurohistiocytose langerhansienne

Author: Le Guennec, Loïc, Martin-Duverneuil, Nadine, Mokhtari, Karima, Santiago-Ribeiro, Maria, Bayen, Eléonore, del Cul, Antoine, Delgadillo, Daniel, Kas, Aurélie, Courtillot, Carine, Haroche, Julien, Cohen, Fleur, Donadieu, Jean, Hoang-Xuan, Khê, Idbaih, Ahmed, Service de neurologie 2 [CHU Pitié-Salpêtrière], 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 de Neuroradiologie [CHU Pitié-Salpêtrière], 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), Service de Neuropathologie [CHU Pitié Salpêtrière], Service de Médecine Nucléaire [Tours], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Médecine Physique et de Réadaptation [CHU Pitié-Salpêtrière] (MPR), Service de psychiatrie adulte [CHU Pitié-Salpêtière], Service de médecine nucléaire [CHU Pitié-Salpétrière], Service d’endocrinologie et médecine de la reproduction [CHU Pitié-Salpêtrière], Institut E3M [CHU Pitié-Salpêtrière], Service de médecine interne [CHU Pitié-Salpétrière], Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-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 National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Service de neuropathologie [CHU Pitié-Salpêtrière], Service de médecine physique et de réadaptation [CHU Pitié-Salpêtrière], Service de Psychiatrie adulte [CHU Pitié-Salpêtrière], Service de médecine nucléaire [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [APHP], Service d’oncologie hématologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute ( ICM ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), and 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)
Subjects: [ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Abstract: International audience; Langerhans cell histiocytosis (LCH) is a rare multisystemic disease. LCH is characterized by proliferation of myeloid progenitors with altered differentiation program and similar phenotypic features to epidermal dendritic cells termed Langerhans cell. LCH cells express CD1a+ and langerin and exhibit BRAF V600E mutation in ∼ 50% of cases. Neurological involvement or neuro-LCH is observed in 5 to 10% of cases. Three subtypes of neuro-LCH are individualized. The tumor type, accounting for 45% of neuro-LCH, affect mainly young adults. Tumor neuro-LCH is characterized by space occupying lesion(s) with contrast enhancement on MRI. Clinical symptoms are due to tumor brain location(s). Pathological examination of tumor neuro-LCH lesions reveals typical features of LCH. Treatment relies on surgical resection with/without chemotherapy. Degenerative neuro-LCH, accounting for 45% of cases, is usually revealed, mostly in children, by: (i) a cerebellar syndrome, (ii) a pyramidal syndrome, (iii) a pseubulbar palsy, and/or (iv) cognitive disorders. On MRI, several signs may coexist: (i) cortex atrophy, (ii) white matter T2 hyperintensities, and (iii) deep gray matter T1 hyperintensities. Pathological analysis of degenerative neuro-LCH lesions have been rarely performed and have never detected CD1a+ histiocytes but unspecific lesions (i.e. gliosis, neuronal loss and/or demyelination). Treatment of degenerative neuro-LCH patients is poorly standardized and poorly efficient. Functional rehabilitation and socio-educational care of these young patients are crucial. The mixed subtype of neuro-LCH combines clinico-radio-pathological characteristics of the first two first forms in the same patient, and represents 10% of neuro-HL. Neuro-HL, therefore, includes three very distinct entities with epidemiological, clinical, radiological and histological specific features requiring specific medical management.; L’histiocytose langerhansienne (HL) est une maladie multisystémique rare. L’HL est correspond à une prolifération de cellules myéloïdes progénitrices au programme de différenciation altéré et au phénotype proche de celui des cellules dendritiques épidermiques, les cellules de Langerhans. Les cellules de l’HL sont caractérisées par l’expression de CD1a et de la langerin et par la présence (∼ 50 %) de mutation du gène BRAF. L’atteinte neurologique ou neuro-HL est observée dans 5 à 10 % des cas. Trois formes de neuro-HL sont individualisées. La forme tumorale, représentant 45 % des neuro-HL, touche l’adulte jeune. Elle se caractérise un ou (des processus) expansif(s) intracrânien(s) prenant le contraste à l’IRM. Les manifestations neurologiques sont en rapport avec la (ou les) localisation(s) lésionnelle(s). L’analyse histologique des lésions neurologiques retrouve les caractéristiques de l’HL. Le traitement repose sur la chirurgie et/ou la chimiothérapie. La forme dégénérative, représentant 45 % des cas, se manifeste, principalement chez l’enfant, par un syndrome cérébello-spasmodique, un syndrome pseudobulbaire et/ou des troubles neuropsychologiques. À l’IRM cérébrale, on observe dans la forme complète : (i) une atrophie corticale, (ii) des hypersignaux T2 de la substance blanche et (iii) des hypersignaux T1 de la substance grise profonde. Les analyses histologiques des lésions cérébrales, bien que rares, n’ont jamais mis en évidence d’histiocytes CD1a+ caractéristiques de la maladie mais des lésions aspécifiques de gliose, de perte neuronale, et/ou de démyélinisation. Le traitement est peu codifié et d’efficacité modeste. La rééducation fonctionnelle et la prise en charge socio-éducative, de ces jeunes patients, sont cruciales. La forme mixte combine les caractéristiques clinicoradiopathologiques des deux premières formes chez le même patient, et représente 10 % des neuro-HL. Les neuro-HL regroupent donc trois entités très distinctes sur le plan épidémiologique, clinique, radiologique et histologique nécessitant des prises en charge spécifiques.
Published: 2016
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19. Lack of bone lesions at diagnosis is associated with inferior outcome in multisystem langerhans cell histiocytosis of childhood

Author: Aricò, Maurizio, Astigarraga, Itziar, Braier, Jorge, Donadieu, Jean, Gadner, Helmut, Glogova, Evgenia, Grois, Nicole, Henter, Jan-Inge, Janka, Gritta, McClain, Kenneth L., Ladisch, Stephan, Pötschger, Ulrike, Rosso, Diego, Thiem, Elfriede, Weitzman, Sheila, Windebank, Kevin, Minkov, Milen, and For the Histiocyte Society
Subjects: Pathology, medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, Aspartate transaminase, Spleen, Medicina Clínica, Costal margin, Bone and Bones, Oncología, Langerhans cell histiocytosis, medicine, Humans, Bone lesion, Child, Proportional Hazards Models, Prognostic factor, biology, business.industry, Infant, Hematology, medicine.disease, Prognosis, Childhood, Multsystem disease, Histiocytosis, Haematopoiesis, Histiocytosis, Langerhans-Cell, medicine.anatomical_structure, Alanine transaminase, Child, Preschool, biology.protein, Bone involvement, business, Risck organ
Abstract: Skeletal involvement is generally, but not universally, characteristic of Langerhans cell histiocytosis (LCH). We investigated whether the presence of bone lesions at diagnosis is a prognostic factor for survival in LCH. Nine hundred and thirty-eight children with multisystem (MS) LCH, both high (386 RO+) and low (RO−) risk, were evaluated for bone lesions at diagnosis. Risk organ (RO+) involvement was defined as: haematopoietic system (haemoglobin 2 cm below the costal margin), liver (>3 cm and/or hypoproteinaemia, hypoalbuminaemia, hyperbilirubinaemia, and/or increased aspartate transaminase/alanine transaminase). Given the general view that prognosis in LCH worsens with increasing extent of disease, the surprising finding was that in MS+RO+ LCH the probability of survival with bone involvement 74 ± 3% (n = 230, 56 events) was reduced to 62 ± 4% (n = 156, 55 events) if this was absent (P = 0·007). An even greater difference was seen in the subgroup of patients with both liver and either haematopoiesis or spleen involvement: 61 ± 5% survival (n = 105; 52 events) if patients had bony lesions, versus 47 ± 5% (n = 111; 39 events) if they did not (P = 0·014). This difference was retained in multivariate analysis (P = 0·048). Although as yet unexplained, we conclude that bone involvement at diagnosis is a previously unrecognized favourable prognostic factor in MS+RO+ LCH. Fil: Aricò, Maurizio. Azienda Sanitaria Provinciale; Italia Fil: Astigarraga, Itziar. Bio Cruces Health Research Institute; España. Universidad del País Vasco; España Fil: Braier, Jorge. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Donadieu, Jean. Hospital Trousseau; Francia Fil: Gadner, Helmut. St. Anna Children's Hospital; Austria. Children's Cancer Research Institute; Austria Fil: Glogova, Evgenia. St. Anna Children's Hospital; Austria. Children's Cancer Research Institute; Austria Fil: Grois, Nicole. Children's Cancer Research Institute; Austria. St. Anna Children's Hospital; Austria Fil: Henter, Jan-Inge. Karolinska Huddinge Hospital. Karolinska Institutet; Suecia Fil: Janka, Gritta. University Medical Centre. Department of Haematology and Oncology; Alemania Fil: McClain, Kenneth L.. Texas Children's Cancer and Hematology Centers ; Estados Unidos Fil: Ladisch, Stephan. Children's National Medical Center ; Estados Unidos Fil: Pötschger, Ulrike. St. Anna Children's Hospital; Austria. Children's Cancer Research Institute; Austria Fil: Rosso, Diego. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños Pedro Elizalde (ex Casa Cuna); Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Thiem, Elfriede. St. Anna Children's Hospital; Austria. Children's Cancer Research Institute; Austria Fil: Weitzman, Sheila. Hospital for Sick Children. Division of Hematology/Oncology; Canadá Fil: Windebank, Kevin. University of Newcastle; Reino Unido Fil: Minkov, Milen. Children's Cancer Research Institute; Austria. St. Anna Children's Hospital; Austria Fil: For the Histiocyte Society.
Published: 2014
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20. Thymus and mediastinal node involvement in childhood Langerhans cell histiocytosis: long-term follow-up from the French national cohort

Author: Ducassou, Stephane, Seyrig, Fanny, Thomas, Caroline, Lambilliotte, Anne, Marec-Berard, Perrine, Berger, Claire, Plat, Genevieve, Brugiere, Laurence, Ouache, Marie, Barkaoui, Mohamed, Armari-Alla, Corinne, Lutz, Patrick, Leverger, Guy, Rialland, Xavier, Mansuy, Ludovic, Pacquement, Helene, Jeziorski, Eric, Gandemer, Virginie, Chalard, François, Chateil, Jean François, Tazi, Abdellatif, Emile, Jean François, Donadieu, Jean, French LCH Study Group, Investigators, Hématologie et oncologie pédiatrique, Centre hospitalier universitaire de Nantes (CHU Nantes), Service d'hématologie pédiatrique-oncologie, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Léon Bérard [Lyon], service d'oncologie pédiatrique, Groupe d'Etude des Histiocytoses (GEH), Groupe d'Etude des Histiocytoses, Hôpital de la Tronche, Hôpital Civil, Hopital Civil, Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Centre Robert Debré, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Institut Curie, Système des phagocytes mononucléés et immunopathologie, Université Paris Descartes - Paris 5 (UPD5), Service de médecine de l'enfant et de l'adolescent, CHU Pontchaillou [Rennes]-Hôpital Sud, Service de pneumologie [Saint-Louis], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service d'anatomie pathologique, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Ambroise Paré, Centre de référence des Histiocytoses, Centre hospitalier universitaire de Nantes ( CHU Nantes ), Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Groupe d'Etude des Histiocytoses ( GEH ), Service d'hématologie-immunologie-oncologie pédiatrique, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], CHU Angers, Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Université Paris Descartes - Paris 5 ( UPD5 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]-Université Paris Diderot - Paris 7 ( UPD7 ), Université de Versailles Saint-Quentin-en-Yvelines ( UVSQ ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Ambroise Paré, 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), Institut Curie [Paris], CHU Pontchaillou [Rennes]-hôpital Sud, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'anatomie pathologique [CHU Ambroise-Paré], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP]
Subjects: Male, Pediatrics, medicine.medical_specialty, Pathology, Langerhans cell, Long term follow up, [SDV]Life Sciences [q-bio], Thymus Gland, 030218 nuclear medicine & medical imaging, National cohort, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Langerhans cell histiocytosis, thymus, medicine, Humans, survey, mediastinal nodes, Langerhans-Cell, Child, Preschool, Research Articles, Childhood Langerhans Cell Histiocytosis, [ SDV ] Life Sciences [q-bio], business.industry, Mediastinum, Infant, Hematology, medicine.disease, 3. Good health, Histiocytosis, Histiocytosis, Langerhans-Cell, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, France, Lymph Nodes, business, Cohort study, Follow-Up Studies
Abstract: Background Mediastinal involvement (MI) in Langerhans cell histiocytosis (LCH) has been rarely reported. Here, we describe the clinical, radiological, and biological presentation, and the outcome of childhood LCH with MI. Method From the French LCH register, which includes 1,423 patients aged less than 18 years, we retrieved the medical charts of patients with mediastinal enlargement detected on chest X-rays. Results Thirty-seven patients were retrieved, including 18 males; median age of diagnosis was 0.7 years, and median follow-up time was 6.2 years. The prevalence of MI varied with the age at diagnosis, ranging from 7% below 1 year old to less than 1% at >5 years. Thirteen cases (35%) were diagnosed because of MI-related symptoms, including respiratory distress (N = 4), superior venous cava syndrome (N = 2), and/or cough and polypnea (N = 10). CT scans performed in 32 cases at diagnosis showed tracheal compression (N = 5), cava thrombosis (N = 2), and/or calcification (N = 16). All patients presented multi-system disease at LCH diagnosis, and 35/37 were initially treated with vinblastine and corticosteroids. Death occurred in five cases, due to MI (N = 1) or hematological refractory involvement (N = 4). The overall 5-year survival was 87.1%, and immunodeficiency was not detected as a sequel. Conclusions MI in LCH mainly occurs in young children, and diagnosis was based on CT showing thymus enlargement and calcifications. Pediatr Blood Cancer 2013;60:1759–1765. © 2013 Wiley Periodicals, Inc.
Published: 2013
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21. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

Author: Dror, Yigal, Donadieu, Jean, Koglmeier, Jutta, Dodge, John, Toiviainen-Salo, Sanna, Makitie, Outi, Kerr, Elizabeth, Zeidler, Cornelia, Shimamura, Akiko, Shah, Neil, Cipolli, Marco, Kuijpers, Taco, Durie, Peter, Rommens, Johanna, Siderius, Liesbeth, Liu, Johnson M., Amsterdam institute for Infection and Immunity, and Paediatric Infectious Diseases / Rheumatology / Immunology
Subjects: cystic fibrosis, Evidence-Based Medicine, Phenotype, AH1N1 influenza, Practice Guidelines as Topic, Humans, Lipomatosis, Exocrine Pancreatic Insufficiency, Bone Marrow Diseases, Shwachman-Diamond Syndrome
Abstract: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency and bone marrow failure, often associated with neurodevelopmental and skeletal abnormalities. Mutations in the SBDS gene have been shown to cause SDS. The purpose of this document is to provide draft guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of hematologic, pancreatic, dietary, dental, skeletal, and neurodevelopmental complications. New recommendations regarding diagnosis and management are presented, reflecting advances in understanding the genetic basis and clinical manifestations of the disease based on the consensus of experienced clinicians from Canada, Europe, and the United States. Whenever possible, evidence-based conclusions are made, but as with other rare diseases, the data on SDS are often anecdotal. The authors welcome comments from readers.
Published: 2011

22. [Clinical presentation and epidemiology of childhood Langerhans cell Histiocytosis]

Author: Donadieu, Jean, Guyot-Goubin, Aurélie, Clavel, Jacqueline, Thomas, Caroline, 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), and Secretariat, U754
Subjects: Europe, Histiocytosis, Langerhans-Cell, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Incidence, histiocytose langerhansienne, Humans, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, France, Child, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2008
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23. Somatic genetic rescue of a germline ribosome assembly defect

Author: Tan, Shengjiang, Kermasson, La��titia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Zakaria, Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, B��le-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, C��cile, Nitschk��, Patrick, Parisot, M��lanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Fr��d��ric, De Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J, Bellann��-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, Fran��ois, Donadieu, Jean, Warren, Alan, and Revy, Patrick
Subjects: Adult, Adolescent, Saccharomyces cerevisiae, Molecular Dynamics Simulation, Young Adult, Animals, Humans, Dictyostelium, Eukaryotic Initiation Factors, Child, Cells, Cultured, Ribonucleoprotein, U5 Small Nuclear, Biological Phenomena, Sequence Homology, Amino Acid, Proteins, Infant, Ribosome Subunits, Large, Eukaryotic, Peptide Elongation Factors, Shwachman-Diamond Syndrome, 3. Good health, Germ Cells, Protein Biosynthesis, Child, Preschool, Mutation, Drosophila, Ribosomes, Protein Binding
Abstract: Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in inherited Mendelian disorders. Here, we establish that acquired mutations in the EIF6 gene are a frequent mechanism of SGR in Shwachman-Diamond syndrome (SDS), a leukemia predisposition disorder caused by a germline defect in ribosome assembly. Biallelic mutations in the SBDS or EFL1 genes in SDS impair release of the anti-association factor eIF6 from the 60S ribosomal subunit, a key step in the translational activation of ribosomes. Here, we identify diverse mosaic somatic genetic events (point mutations, interstitial deletion, reciprocal chromosomal translocation) in SDS hematopoietic cells that reduce eIF6 expression or disrupt its interaction with the 60S subunit, thereby conferring a selective advantage over non-modified cells. SDS-related somatic EIF6 missense mutations that reduce eIF6 dosage or eIF6 binding to the 60S subunit suppress the defects in ribosome assembly and protein synthesis across multiple SBDS-deficient species including yeast, Dictyostelium and Drosophila. Our data suggest that SGR is a universal phenomenon that may influence the clinical evolution of diverse Mendelian disorders and support eIF6 suppressor mimics as a therapeutic strategy in SDS., Blood Cancer UK, UK Medical Research Council, Kay Kendall Leukaemia Fund, a Wellcome Trust strategic award to the Cambridge Institute for Medical Research, a core support grant from the Wellcome Trust and MRC to the Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute, the Connor Wright Project, the Cambridge National Institute for Health Research Biomedical Research Centre and the European Cooperation in Science and Technology (COST) Action CA18233 ��European Network for Innovative Diagnosis and treatment of Chronic Neutropenias, EuNet INNOCHRON��.

24. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease and histiocytic sarcoma

Author: Haroche, Julien, Diamond, Eli L., Emile, Jean-Francois, Helias-Rodzewicz, Zofia, Cohen-Aubart, Fleur, Charlotte, Frederic, Hyman, David M., Rampal, Raajit, Patel, Minal, Ganzel, Chezi, Aumann, Shlomzion, Faucher, Gladwys, Le Gall, Catherine, Karen Leroy, Colombat, Magali, Kahn, Jean-Emmanuel, Trad, Salim, Nizard, Phlippe, Donadieu, Jean, Taly, Valerie, Amoura, Zahir, and Abdel-Wahab, Omar

25. Alk plus Histiocytosis: A new Clinicopathologic Spectrum highlighting Neurologic Involvement and Responses to Alk Inhibition

Author: Kemps, Paul, Picarsic, Jennifer, Durham, Benjamin H., Helias-Rodzewicz, Zofia, Hiemcke-Jiwa, Laura, Den Bos, Cor, Dewetering, Marianne D., Noesel, Carel J. M., Hogendoorn, Pancras C. W., Woei-A-Jin, F. J. Sherida H., Sciot, Raf, Beilken, Andreas, Feuerhake, Friedrich, Martin Ebinger, Mohle, Robert, Fend, Falko, Bornemann, Antje, Wiegering, Verena, Ernestus, Karen, Mery, Tina, Gryniewicz-Kwiatkowska, Olga, Dembowska-Baginska, Bozenna, Evseev, Dmitry A., Potapenko, Vsevolod, Baykov, Vadim V., Gaspari, Stefania, Rossi, Sabrina, Gessi, Marco, Tamburrini, Gianpiero, Heritier, Sebastien, Bonneau-Lagacherie, Jacinthe, Lamaison, Claire, Farnault, Laure, Fraitag, Sylvie, Donadieu, Jean, Haroche, Julien, Collin, Matthew, Allotey, Jackie, Madni, Majid, Turner, Kerry, Picton, Susan, Barbaro, Pasquale M., El Demellawy, Dina, Empringham, Brianna, Whitlock, James A., Raghunathan, Aditya, Swanson, Amy A., Suchi, Mariko, Brandt, Jon M., Yaseen, Nabeel R., Weinstein, Joanna L., Eldem, Irem, Sisk, Bryan A., Sridha, Vaishnavi, Atkinson, Mandy, Massoth, Lucas R., Hornick, Jason L., Alexandrescu, Sanda, Yeo, Kee Kiat, Petrova-Drus, Kseniya, Peeke, Stephen Z., Munoz-Arcos, Laura S., Leino, Daniel G., Grier, David D., Lorsbach, Robert, Roy, Somak, Kumar, Ashish R., Garg, Shipra, Tiwari, Nishant, Schafernak, Kristian T., Henry, Michael M., Halteren, Astrid G. S., Abla, Oussama, Diamond, Eli L., and Emile, Jean-Francois

26. Pharmacokinetics study of vemurafenib in a pediatric population: preliminary results

Author: Donadieu, Jean, Fabresse, Nicolas, Larabi, Islam Amine, Abe, Emuri, Sébastien Héritier, and Alvarez, Jean-Claude

27. 4WHIM: Evaluating the Oral CXCR4 Antagonist Mavorixafor in Patients With WHIM Syndrome via a Global Phase 3, Randomized, Placebo-Controlled Trial With Open-label Extension

Author: Dale, David, Alsina, Laia, Azar, Antoine, Badolato, Raffaele, Bertrand, Yves, Ezra, Navid, Hasle, Henrik, Kang, Hyoung Jin, Kiani-Alikhan, Sorena, Kuijpers, Taco, Alexander Kulagin, Langguth, Daman, Levin, Carina, Neth, Olaf, Peake, Jane, Shcherbina, Anna, Tarrant, Teresa, Vossen, Matthias, Wysocki, Christian, Belschner, Andrea, Cadavid, Diego, Jiang, Honghua, Macleod, Richard, Tang, Weihua, and Donadieu, Jean
Subjects: CXCR4, randomized, neutropenia, clinical trial, primary immunodeficiency, myelokathexis, WHIM syndrome

28. Somatic genetic rescue of a germline ribosome assembly defect

Author: Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, De Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., and Revy, Patrick
Subjects: 82/80, 64/24, 13/1, 631/208/514/2254, 38/22, article, 631/337/574/1789, 45/23, 96/44, 631/208/737, 692/699/1541, 3. Good health
Abstract: Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in inherited Mendelian disorders. Here, we establish that acquired mutations in the EIF6 gene are a frequent mechanism of SGR in Shwachman-Diamond syndrome (SDS), a leukemia predisposition disorder caused by a germline defect in ribosome assembly. Biallelic mutations in the SBDS or EFL1 genes in SDS impair release of the anti-association factor eIF6 from the 60S ribosomal subunit, a key step in the translational activation of ribosomes. Here, we identify diverse mosaic somatic genetic events (point mutations, interstitial deletion, reciprocal chromosomal translocation) in SDS hematopoietic cells that reduce eIF6 expression or disrupt its interaction with the 60S subunit, thereby conferring a selective advantage over non-modified cells. SDS-related somatic EIF6 missense mutations that reduce eIF6 dosage or eIF6 binding to the 60S subunit suppress the defects in ribosome assembly and protein synthesis across multiple SBDS-deficient species including yeast, Dictyostelium and Drosophila. Our data suggest that SGR is a universal phenomenon that may influence the clinical evolution of diverse Mendelian disorders and support eIF6 suppressor mimics as a therapeutic strategy in SDS.

29. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Author: Tan, Shengjiang, Kermasson, Laëtitia, Hoslin, Angela, Jaako, Pekka, Faille, Alexandre, Acevedo-Arozena, Abraham, Lengline, Etienne, Ranta, Dana, Poirée, Maryline, Fenneteau, Odile, Ducou Le Pointe, Hubert, Fumagalli, Stefano, Beaupain, Blandine, Nitschké, Patrick, Bôle-Feysot, Christine, De Villartay, Jean-Pierre, Bellanné-Chantelot, Christine, Donadieu, Jean, Kannengiesser, Caroline, Warren, Alan J, and Revy, Patrick
Subjects: Male, Models, Molecular, Adolescent, Whole Genome Sequencing, Protein Conformation, DNA Mutational Analysis, Infant, Mice, Transgenic, Peptide Elongation Factors, Shwachman-Diamond Syndrome, 3. Good health, Pedigree, Disease Models, Animal, Mice, Structure-Activity Relationship, Phenotype, Peptide Initiation Factors, Mutation, Animals, Humans, Female, Disease Susceptibility, Cells, Cultured, Ribonucleoprotein, U5 Small Nuclear, Genome-Wide Association Study
Abstract: Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies. SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that cooperates with elongation factor-like GTPase 1 (EFL1) to catalyze release of the ribosome antiassociation factor eIF6 and activate translation. Here, we report biallelic mutations in EFL1 in 3 unrelated individuals with clinical features of SDS. Cellular defects in these individuals include impaired ribosomal subunit joining and attenuated global protein translation as a consequence of defective eIF6 eviction. In mice, Efl1 deficiency recapitulates key aspects of the SDS phenotype. By identifying biallelic EFL1 mutations in SDS, we define this leukemia predisposition disorder as a ribosomopathy that is caused by corruption of a fundamental, conserved mechanism, which licenses entry of the large ribosomal subunit into translation.

30. Clonal Hematopoiesis in Erdheim-Chester Disease

Author: Haroche, Julien, Stéphanie Poulain, Marceau-Renaut, Alice, Renneville, Aline, Settegrana, Catherine, Maloum, Karim, Roos-Weil, Damien, Nguyen-Khac, Florence, Donadieu, Jean, Emile, Jean-Francois, Amoura, Zahir, and Cohen-Aubart, Fleur

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30 results on '"DONADIEU, Jean"'

1. Molecular and clinicopathologic characterization of pediatric histiocytoses

2. Additional file 3 of Establishment of MOS-SF36 percentile ranks in the general youth French population

3. Additive prognostic impact of gastrointestinal involvement in severe multisystem Langerhans cell histiocytosis

4. Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

5. How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome

6. CUTANEOUS ADVERSE EVENTS IN CHILDREN TREATED WITH BRAF-INHIBITOR VEMURAFENIB FOR REFRACTORY BRAF (V600E) MUTATED LANGERHANS CELL HISTIOCYTOSIS: A EUROPEAN COHORT STUDY

7. VEMURAFENIB IN CHILDREN WITH REFRACTORY LCH: 53 PATIENTS TREATED IN EU AND LEBANON

8. Diabetes Mellitus, Extreme Insulin Resistance, and Hypothalamic-Pituitary Langerhans Cells Histiocytosis

9. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)

10. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

11. Outcome after failure of allogeneic hematopoietic stem cell transplantation in children with acute leukemia: a study by the société Francophone de greffe de moelle et de thérapie cellulaire (SFGM-TC)

12. Additional file 1: of New somatic BRAF splicing mutation in Langerhans cell histiocytosis

13. Dialogic interaction and psychosocial-cognitive profile in Shwachman-Diamond syndrome

14. Profil psychosociocognitif et dialectique du syndrome de Shwachman-Diamond. Enfance, 2, 153-170

15. Altered chemotactic response to CXCL12 in patients carrying GATA2 ă mutations

16. B–helper neutrophils stimulate immunoglobulin diversification and production in the marginal zone of the spleen

17. Efficience intellectuelle chez les enfants porteurs du syndrome de shwachman-Diamond : revue de littérature et prospectives de recherche

18. Neurohistiocytose langerhansienne

19. Lack of bone lesions at diagnosis is associated with inferior outcome in multisystem langerhans cell histiocytosis of childhood

20. Thymus and mediastinal node involvement in childhood Langerhans cell histiocytosis: long-term follow-up from the French national cohort

21. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

22. [Clinical presentation and epidemiology of childhood Langerhans cell Histiocytosis]

23. Somatic genetic rescue of a germline ribosome assembly defect

24. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease and histiocytic sarcoma

25. Alk plus Histiocytosis: A new Clinicopathologic Spectrum highlighting Neurologic Involvement and Responses to Alk Inhibition

26. Pharmacokinetics study of vemurafenib in a pediatric population: preliminary results

27. 4WHIM: Evaluating the Oral CXCR4 Antagonist Mavorixafor in Patients With WHIM Syndrome via a Global Phase 3, Randomized, Placebo-Controlled Trial With Open-label Extension

28. Somatic genetic rescue of a germline ribosome assembly defect

29. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

30. Clonal Hematopoiesis in Erdheim-Chester Disease

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