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Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

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Title: Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Authors: Hadjadj J; Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.; Université de Paris, IHU-Imagine, 24 boulevard du Montparnasse, Paris, 75015, France., Castro CN; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Tusseau M; Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France., Stolzenberg MC; Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.; Université de Paris, IHU-Imagine, 24 boulevard du Montparnasse, Paris, 75015, France., Mazerolles F; Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.; Université de Paris, IHU-Imagine, 24 boulevard du Montparnasse, Paris, 75015, France., Aladjidi N; Centre de Référence National des Cytopénies Auto-immunes de l'Enfant (CEREVANCE), CIC 1401, Inserm CICP, Bordeaux, France.; Pediatric Oncology Hematology Unit, University Hospital, place Amélie Raba Léon, CIC 1401, Inserm, CICP, Bordeaux, France., Armstrong M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium., Ashrafian H; Experimental Therapeutics, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom., Cutcutache I; Translational Medicine, UCB Pharma, Slough, United Kingdom., Ebetsberger-Dachs G; Department of Pediatrics, Kepler University Hospital and School of Medicine, Johannes Kepler University, Linz, Austria., Elliott KS; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Durieu I; Internal Medicine and Vascular Pathology Department, Adult Cystic Fibrosis Center, Groupement Hospitalier Lyon-Sud, Hospices Civils de Lyon, Pierre-Bénite, France.; EA 7425 HESPER. Université de Lyon, Lyon, France., Fabien N; Immunology laboratory; Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Lyon, France., Fusaro M; Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France., Heeg M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Schmitt Y; Genomic Core Facility, INSERM UMR1163, Imagine Institute, Paris, France., Bras M; Université de Paris, IHU-Imagine, 24 boulevard du Montparnasse, Paris, 75015, France., Knight JC; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Lega JC; Department of Internal and Vascular Medicine, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Lyon, France.; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases (RAISE), Lyon, France.; UMR 5558, Equipe Evaluation et Modélisation des Effets Thérapeutiques, Laboratoire de Biométrie et Biologie Evolutive, CNRS, Claude Bernard University Lyon 1, Lyon, France., Lesca G; Service de Génétique, Hospices Civils de Lyon - GHE, and Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Mathieu AL; Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France., Moreews M; Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France., Moreira B; Immunology Laboratory, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Nosbaum A; Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France.; Allergy and Clinical Immunology department, Groupement Hospitalier Lyon-Sud, Hospices Civils de Lyon, Pierre-Bénite, France., Page M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium., Picard C; Institut de Pathologie Multisite, Groupement Hospitalier Est, Hospices Civils de Lyon, UCBL Lyon 1 University, Lyon, France., Ronan Leahy T; Department of Paediatric Immunology and Infectious Diseases, Children's Health Ireland at Crumlin, Dublin, Ireland., Rouvet I; Centre de biotechnologie cellulaire et Biothèque, Groupe Hospitalier Est, Hospices Civils de Lyon, 69677, Bron, France., Ryan E; Department of Paediatrics, University Hospital Galway, Co, Galway, Ireland., Sanlaville D; Service de Génétique, Hospices Civils de Lyon - GHE, and Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Schwarz K; Institute for Transfusion Medicin, University Ulm and Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Württemberg-Hessen, 89081, Ulm, Germany., Skelton A; Translational Medicine, UCB Pharma, Slough, United Kingdom., Viallard JF; Département de Médecine Interne et Maladies Infectieuses, Centre Hospitalier Universitaire Haut Lévêque, Université de Bordeaux, Pessac, France., Viel S; Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France.; Service d'Immunologie Biologique, Groupement Hospitalier Lyon-Sud, Hospices Civils de Lyon, Pierre-Bénite, France., Villard M; Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France., Callebaut I; Sorbonne Université, Muséum National d'Histoire Naturelle, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, Paris, France., Picard C; Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.; Université de Paris, Imagine institute, laboratory of Iymphocyte activation and susceptibility to EBV, INSERM UMR 1163, 24 boulevard du Montparnasse, Paris, 75015, France., Walzer T; Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France., Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; CIBSS - Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany., Fischer A; Université de Paris, IHU-Imagine, 24 boulevard du Montparnasse, Paris, 75015, France.; Paediatric Immuno-Haematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, 75015, Paris, France.; Collège de France, Paris, France., Neven B; Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.; Université de Paris, IHU-Imagine, 24 boulevard du Montparnasse, Paris, 75015, France.; Paediatric Immuno-Haematology and Rheumatology Department, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, 75015, Paris, France., Belot A; Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon, Lyon, France. alexandre.belot@chu-lyon.fr.; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases (RAISE), Lyon, France. alexandre.belot@chu-lyon.fr.; Hospices Civils de Lyon, Paediatric Nephrology, Rheumatology, Dermatology Unit, Mother and Children University Hospital, Bron, France. alexandre.belot@chu-lyon.fr., Rieux-Laucat F; Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France. frederic.rieux-laucat@inserm.fr.; Université de Paris, IHU-Imagine, 24 boulevard du Montparnasse, Paris, 75015, France. frederic.rieux-laucat@inserm.fr.
Source: Nature communications [Nat Commun] 2020 Oct 21; Vol. 11 (1), pp. 5341. Date of Electronic Publication: 2020 Oct 21.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2041-1723
DOI:10.1038/s41467-020-18925-4