Nature Communications (Oct 2020)
Early-onset autoimmunity associated with SOCS1 haploinsufficiency
- Jérôme Hadjadj,
- Carla Noemi Castro,
- Maud Tusseau,
- Marie-Claude Stolzenberg,
- Fabienne Mazerolles,
- Nathalie Aladjidi,
- Martin Armstrong,
- Houman Ashrafian,
- Ioana Cutcutache,
- Georg Ebetsberger-Dachs,
- Katherine S. Elliott,
- Isabelle Durieu,
- Nicole Fabien,
- Mathieu Fusaro,
- Maximilian Heeg,
- Yohan Schmitt,
- Marc Bras,
- Julian C. Knight,
- Jean-Christophe Lega,
- Gaetan Lesca,
- Anne-Laure Mathieu,
- Marion Moreews,
- Baptiste Moreira,
- Audrey Nosbaum,
- Matthew Page,
- Cécile Picard,
- T. Ronan Leahy,
- Isabelle Rouvet,
- Ethel Ryan,
- Damien Sanlaville,
- Klaus Schwarz,
- Andrew Skelton,
- Jean-Francois Viallard,
- Sebastien Viel,
- Marine Villard,
- Isabelle Callebaut,
- Capucine Picard,
- Thierry Walzer,
- Stephan Ehl,
- Alain Fischer,
- Bénédicte Neven,
- Alexandre Belot,
- Frédéric Rieux-Laucat
Affiliations
- Jérôme Hadjadj
- Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163
- Carla Noemi Castro
- Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg
- Maud Tusseau
- Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon
- Marie-Claude Stolzenberg
- Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163
- Fabienne Mazerolles
- Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163
- Nathalie Aladjidi
- Centre de Référence National des Cytopénies Auto-immunes de l’Enfant (CEREVANCE), CIC 1401, Inserm CICP
- Martin Armstrong
- Translational Medicine, UCB Pharma
- Houman Ashrafian
- Experimental Therapeutics, Radcliffe Department of Medicine, University of Oxford
- Ioana Cutcutache
- Translational Medicine, UCB Pharma
- Georg Ebetsberger-Dachs
- Department of Pediatrics, Kepler University Hospital and School of Medicine, Johannes Kepler University
- Katherine S. Elliott
- Wellcome Centre for Human Genetics, University of Oxford
- Isabelle Durieu
- Internal Medicine and Vascular Pathology Department, Adult Cystic Fibrosis Center, Groupement Hospitalier Lyon-Sud, Hospices Civils de Lyon
- Nicole Fabien
- Immunology laboratory; Centre Hospitalier Lyon Sud, Hospices Civils de Lyon
- Mathieu Fusaro
- Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children
- Maximilian Heeg
- Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg
- Yohan Schmitt
- Genomic Core Facility, INSERM UMR1163, Imagine Institute
- Marc Bras
- Université de Paris, IHU-Imagine
- Julian C. Knight
- Wellcome Centre for Human Genetics, University of Oxford
- Jean-Christophe Lega
- Department of Internal and Vascular Medicine, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon
- Gaetan Lesca
- Service de Génétique, Hospices Civils de Lyon - GHE, and Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1
- Anne-Laure Mathieu
- Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon
- Marion Moreews
- Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon
- Baptiste Moreira
- Immunology Laboratory, Necker Children’s Hospital, Assistance Publique-Hôpitaux de Paris
- Audrey Nosbaum
- Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon
- Matthew Page
- Translational Medicine, UCB Pharma
- Cécile Picard
- Institut de Pathologie Multisite, Groupement Hospitalier Est, Hospices Civils de Lyon, UCBL Lyon 1 University
- T. Ronan Leahy
- Department of Paediatric Immunology and Infectious Diseases, Children’s Health Ireland at Crumlin
- Isabelle Rouvet
- Centre de biotechnologie cellulaire et Biothèque, Groupe Hospitalier Est, Hospices Civils de Lyon
- Ethel Ryan
- Department of Paediatrics, University Hospital Galway, Co
- Damien Sanlaville
- Service de Génétique, Hospices Civils de Lyon - GHE, and Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1
- Klaus Schwarz
- Institute for Transfusion Medicin, University Ulm and Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Württemberg-Hessen
- Andrew Skelton
- Translational Medicine, UCB Pharma
- Jean-Francois Viallard
- Département de Médecine Interne et Maladies Infectieuses, Centre Hospitalier Universitaire Haut Lévêque, Université de Bordeaux
- Sebastien Viel
- Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon
- Marine Villard
- Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon
- Isabelle Callebaut
- 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
- Capucine Picard
- Study Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children
- Thierry Walzer
- Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon
- Stephan Ehl
- Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg
- Alain Fischer
- Université de Paris, IHU-Imagine
- Bénédicte Neven
- Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163
- Alexandre Belot
- Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, École Normale Supérieure de Lyon, University of Lyon
- Frédéric Rieux-Laucat
- Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163
- DOI
- https://doi.org/10.1038/s41467-020-18925-4
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 11
Abstract
SOCS1 is a potent suppressor of JAK-STAT signalling responses to IFNγ and γ-chain cytokines and thereby limits inflammation. Here the authors identify and characterize heterozygous SOCS1 mutations in 10 patients from 5 unrelated families with autoimmune diseases.
