ArticleNature communications2020
Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
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Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers.
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94citing papers in PubMed
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Who cites it
94 citing papers in PubMed, 142 citations in OpenAlex.
- Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.International journal of molecular sciences · 2026Article
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- The zinc-finger protein ZC3H10 suppresses type I interferon responses during viral infection by repressing interferon-stimulated gene promoters.PLoS biology · 2026Article
- Clinical Spectrum and Therapeutic Options in Monogenic CTLA-4-, LRBA-, or SOCS1-Related Primary Immune Regulatory Disorders.The journal of allergy and clinical immunology. In practice · 2026Review
- Monogenic autoimmune and autoinflammatory disorders in adulthood: recent discoveries and implications for rheumatology practice.Rheumatology (Oxford, England) · 2026Review
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- In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.EMBO molecular medicine · 2025Article
- CoDIAC: A comprehensive approach for interaction analysis provides insights into SH2 domain function and regulation.Science signaling · 2025Article
- Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations.Journal of clinical immunology · 2025Article
- In Silico Analysis of MiRNA Regulatory Networks to Identify Potential Biomarkers for the Clinical Course of Viral Infections.International journal of molecular sciences · 2025Article
- Characterisation and diagnostic model of monogenic lupus.Immunologic research · 2025Article
- The Present and Future of Genetic Sequencing as Applied to Diagnosis and Management in Rheumatology.Arthritis & rheumatology (Hoboken, N.J.) · 2025Article
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- STAT3 haploinsufficiency is associated with autosomal dominant hyper-IgE syndrome.Science advances · 2025Article
34 more citing papers are in PubMed but not listed here.
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Authors and funding
43 authors at 17 institutions in 7 countries.
Jérôme HadjadjUniversité de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.
Carla Noemi CastroInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID 0000-0002-2689-9072
Maud TusseauCentre 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.
Marie-Claude StolzenbergUniversité de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.
Fabienne MazerollesUniversité de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.
Nathalie AladjidiCentre de Référence National des Cytopénies Auto-immunes de l'Enfant (CEREVANCE), CIC 1401, Inserm CICP, Bordeaux, France.
Martin ArmstrongTranslational Medicine, UCB Pharma, Braine-l'Alleud, Belgium.
Houman AshrafianExperimental Therapeutics, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.
Ioana CutcutacheTranslational Medicine, UCB Pharma, Slough, United Kingdom.
Georg Ebetsberger-DachsDepartment of Pediatrics, Kepler University Hospital and School of Medicine, Johannes Kepler University, Linz, Austria.
Katherine S ElliottWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.ORCID 0000-0002-8125-797X
Isabelle DurieuInternal Medicine and Vascular Pathology Department, Adult Cystic Fibrosis Center, Groupement Hospitalier Lyon-Sud, Hospices Civils de Lyon, Pierre-Bénite, France.
Nicole FabienImmunology laboratory; Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Lyon, France.
Mathieu FusaroStudy Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.
Maximilian HeegInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID 0000-0002-9594-1377
Yohan SchmittGenomic Core Facility, INSERM UMR1163, Imagine Institute, Paris, France.
Marc BrasUniversité de Paris, IHU-Imagine, 24 boulevard du Montparnasse, Paris, 75015, France.
Julian C KnightWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.ORCID 0000-0002-0377-5536
Jean-Christophe LegaDepartment of Internal and Vascular Medicine, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Lyon, France.
Gaetan LescaService 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.ORCID 0000-0001-7691-9492
Anne-Laure MathieuCentre 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.
Marion MoreewsCentre 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.
Baptiste MoreiraImmunology Laboratory, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
Audrey NosbaumCentre 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.
Matthew PageTranslational Medicine, UCB Pharma, Braine-l'Alleud, Belgium.
Cécile PicardInstitut de Pathologie Multisite, Groupement Hospitalier Est, Hospices Civils de Lyon, UCBL Lyon 1 University, Lyon, France.ORCID 0000-0001-9284-4531
T Ronan LeahyDepartment of Paediatric Immunology and Infectious Diseases, Children's Health Ireland at Crumlin, Dublin, Ireland.
Isabelle RouvetCentre de biotechnologie cellulaire et Biothèque, Groupe Hospitalier Est, Hospices Civils de Lyon, 69677, Bron, France.
Ethel RyanDepartment of Paediatrics, University Hospital Galway, Co, Galway, Ireland.
Damien SanlavilleService 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.
Klaus SchwarzInstitute 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.
Andrew SkeltonTranslational Medicine, UCB Pharma, Slough, United Kingdom.
Jean-Francois ViallardDépartement de Médecine Interne et Maladies Infectieuses, Centre Hospitalier Universitaire Haut Lévêque, Université de Bordeaux, Pessac, France.
Sebastien VielCentre 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.ORCID 0000-0002-5085-443X
Marine VillardCentre 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.ORCID 0000-0002-3905-8993
Isabelle CallebautSorbonne 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.
Capucine PicardStudy Center for Primary Immunodeficiencies, AP-HP, Necker Hospital for Sick Children, Paris, France.
Thierry WalzerCentre 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.
Stephan EhlInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Alain FischerUniversité de Paris, IHU-Imagine, 24 boulevard du Montparnasse, Paris, 75015, France.
Bénédicte NevenUniversité de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.
Alexandre BelotCentre 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.ORCID 0000-0003-4902-5332
Frédéric Rieux-LaucatUniversité 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.ORCID 0000-0001-7858-7866
Université Claude Bernard Lyon 1 · FRInserm · FRUniversity of Freiburg · DEAssistance Publique – Hôpitaux de Paris · FRCentre for Human Genetics · GBHôpital Necker-Enfants Malades · FRHospices Civils de Lyon · FRUCB Pharma (Belgium) · BEUCB Pharma (United Kingdom) · GBCentre National de la Recherche Scientifique · FRChildren's Health Ireland at Crumlin · IEGerman Red Cross · DEJohannes Kepler University of Linz · ATUniversité de Bordeaux · FRUniversité Paris Cité · FRUniversity Hospital Galway · IEUniversity of Oxford · GB
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoimmunity can occur when a checkpoint of self-tolerance fails. The study of familial autoimmune diseases can reveal pathophysiological mechanisms involved in more common autoimmune diseases. Here, by whole-exome/genome sequencing we identify heterozygous, autosomal-dominant, germline loss-of-function mutations in the SOCS1 gene in ten patients from five unrelated families with early onset autoimmune manifestations. The intracellular protein SOCS1 is known to downregulate cytokine signaling by inhibiting the JAK-STAT pathway. Accordingly, patient-derived lymphocytes exhibit increased STAT activation in vitro in response to interferon-γ, IL-2 and IL-4 that is reverted by the JAK1/JAK2 inhibitor ruxolitinib. This effect is associated with a series of in vitro and in vivo immune abnormalities consistent with lymphocyte hyperactivity. Hence, SOCS1 haploinsufficiency causes a dominantly inherited predisposition to early onset autoimmune diseases related to cytokine hypersensitivity of immune cells.
Indexed as
AdolescentAdultAge of OnsetAutoimmune DiseasesAutoimmunityChildChild, PreschoolCytokinesFemaleHaploinsufficiencyHumansMaleModels, MolecularMutationPedigreeSignal TransductionCytokinesSOCS1 protein, humanSTAT Transcription FactorsSuppressor of Cytokine Signaling 1 Protein
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