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
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  Data: Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
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  Data: <searchLink fieldCode="AU" term="%22Hadjadj+J%22">Hadjadj J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Castro+CN%22">Castro CN</searchLink>; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Tusseau+M%22">Tusseau M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Stolzenberg+MC%22">Stolzenberg MC</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mazerolles+F%22">Mazerolles F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Aladjidi+N%22">Aladjidi N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Armstrong+M%22">Armstrong M</searchLink>; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium.<br /><searchLink fieldCode="AU" term="%22Ashrafian+H%22">Ashrafian H</searchLink>; Experimental Therapeutics, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cutcutache+I%22">Cutcutache I</searchLink>; Translational Medicine, UCB Pharma, Slough, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ebetsberger-Dachs+G%22">Ebetsberger-Dachs G</searchLink>; Department of Pediatrics, Kepler University Hospital and School of Medicine, Johannes Kepler University, Linz, Austria.<br /><searchLink fieldCode="AU" term="%22Elliott+KS%22">Elliott KS</searchLink>; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Durieu+I%22">Durieu I</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fabien+N%22">Fabien N</searchLink>; Immunology laboratory; Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Fusaro+M%22">Fusaro M</searchLink>; Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.<br /><searchLink fieldCode="AU" term="%22Heeg+M%22">Heeg M</searchLink>; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Schmitt+Y%22">Schmitt Y</searchLink>; Genomic Core Facility, INSERM UMR1163, Imagine Institute, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bras+M%22">Bras M</searchLink>; Université de Paris, IHU-Imagine, 24 boulevard du Montparnasse, Paris, 75015, France.<br /><searchLink fieldCode="AU" term="%22Knight+JC%22">Knight JC</searchLink>; 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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.<br /><searchLink fieldCode="AU" term="%22Moreira+B%22">Moreira B</searchLink>; Immunology Laboratory, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Nosbaum+A%22">Nosbaum A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Page+M%22">Page M</searchLink>; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium.<br /><searchLink fieldCode="AU" term="%22Picard+C%22">Picard C</searchLink>; Institut de Pathologie Multisite, Groupement Hospitalier Est, Hospices Civils de Lyon, UCBL Lyon 1 University, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Ronan+Leahy+T%22">Ronan Leahy T</searchLink>; Department of Paediatric Immunology and Infectious Diseases, Children's Health Ireland at Crumlin, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Rouvet+I%22">Rouvet I</searchLink>; Centre de biotechnologie cellulaire et Biothèque, Groupe Hospitalier Est, Hospices Civils de Lyon, 69677, Bron, France.<br /><searchLink fieldCode="AU" term="%22Ryan+E%22">Ryan E</searchLink>; Department of Paediatrics, University Hospital Galway, Co, Galway, Ireland.<br /><searchLink fieldCode="AU" term="%22Sanlaville+D%22">Sanlaville D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schwarz+K%22">Schwarz K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Skelton+A%22">Skelton A</searchLink>; Translational Medicine, UCB Pharma, Slough, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Viallard+JF%22">Viallard JF</searchLink>; Département de Médecine Interne et Maladies Infectieuses, Centre Hospitalier Universitaire Haut Lévêque, Université de Bordeaux, Pessac, France.<br /><searchLink fieldCode="AU" term="%22Viel+S%22">Viel S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Villard+M%22">Villard M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Callebaut+I%22">Callebaut I</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Picard+C%22">Picard C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Walzer+T%22">Walzer T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ehl+S%22">Ehl S</searchLink>; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; 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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.<br /><searchLink fieldCode="AU" term="%22Rieux-Laucat+F%22">Rieux-Laucat F</searchLink>; 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.
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          Name:
            NameFull: Schwarz K
      – PersonEntity:
          Name:
            NameFull: Skelton A
      – PersonEntity:
          Name:
            NameFull: Viallard JF
      – PersonEntity:
          Name:
            NameFull: Viel S
      – PersonEntity:
          Name:
            NameFull: Villard M
      – PersonEntity:
          Name:
            NameFull: Callebaut I
      – PersonEntity:
          Name:
            NameFull: Picard C
      – PersonEntity:
          Name:
            NameFull: Walzer T
      – PersonEntity:
          Name:
            NameFull: Ehl S
      – PersonEntity:
          Name:
            NameFull: Fischer A
      – PersonEntity:
          Name:
            NameFull: Neven B
      – PersonEntity:
          Name:
            NameFull: Belot A
      – PersonEntity:
          Name:
            NameFull: Rieux-Laucat F
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 21
              M: 10
              Text: 2020 Oct 21
              Type: published
              Y: 2020
          Identifiers:
            – Type: issn-electronic
              Value: 2041-1723
          Numbering:
            – Type: volume
              Value: 11
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Nature communications
              Type: main
ResultId 1