ArticleScience immunology2019
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in
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Article in Science immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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74citing papers in PubMed
6.0field-weighted citation impact, top 3% of its field
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Who cites it
74 citing papers in PubMed, 110 citations in OpenAlex.
- Functional diversity of natural humanScience advances · 2026Article
- Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2).The Journal of experimental medicine · 2026Article
- STAT2 R148 variant: A 16th-century founder mutation and clinical response to high-dose JAK inhibitor therapy.Journal of human immunity · 2026Article
- Type I Interferonopathies: Fifteen Years On, From Concept to Therapeutic Perspectives.Current rheumatology reports · 2026Review
- De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndrome.Epilepsia · 2025Article
- USP18 Deficiency Presenting as Severe Neonatal Encephalopathy: A Case Report and Review of Pseudo-TORCH Syndromes.Cureus · 2025Article
- Allogeneic hematopoietic cell transplantation for autoinflammatory disorders.International journal of hematology · 2025Review
- Article
- Post-transplant Thrombotic Microangiopathy.Journal of the American Society of Nephrology : JASN · 2025Review
- JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.Frontiers in immunology · 2025Review
- NovelFrontiers in immunology · 2025Article
- Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.Nature reviews. Rheumatology · 2025Review
- Outcomes from the International Society of Nephrology Hemolytic Uremic Syndromes International Forum.Kidney international · 2024Article
- CNS disease associated with enhanced type I interferon signalling.The Lancet. Neurology · 2024Review
- Infections in Inborn Errors of STATs.Pathogens (Basel, Switzerland) · 2024Review
- Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.The Journal of experimental medicine · 2024Article
- Type I Interferonopathy among Non-Elderly Female Patients with Post-Acute Sequelae of COVID-19.Viruses · 2024Article
- Type I interferon pathway in pediatric systemic lupus erythematosus.World journal of pediatrics : WJP · 2024Review
- Type I interferon regulates interleukin-1beta and IL-18 production and secretion in human macrophages.Life science alliance · 2024Article
- Article
14 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
38 authors at 14 institutions in 4 countries.
Christopher J A DuncanPrimary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK. christopher.duncan@ncl.ac.uk tracy.briggs@manchester.ac.uk sophie.hambleton@ncl.ac.uk.ORCID 0000-0003-4181-2315
Benjamin J ThompsonPrimary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0002-3360-587X
Rui ChenPrimary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Gillian I RiceDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.ORCID 0000-0002-4223-0571
Florian GothePrimary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0003-0421-6610
Dan F YoungSchool of Biology, University of St. Andrews, St. Andrews, UK.ORCID 0000-0003-4972-1311
Simon C LovellDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
Victoria G ShuttleworthComplement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Vicky BrocklebankComplement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Bronte CornerComplement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Andrew J SkeltonPrimary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0002-1094-6217
Vincent BondetImmunobiology of Dendritic Cells, Institut Pasteur, Paris, France.ORCID 0000-0002-6534-0984
Jonathan CoxheadGenomics Core Facility, Biosciences Institute, Newcastle University, UK.
Darragh DuffyImmunobiology of Dendritic Cells, Institut Pasteur, Paris, France.ORCID 0000-0002-8875-2308
Cecile FourragePlateforme Bioinformatique, Institut Imagine, Paris, France.
John H LivingstonDepartment of Paediatric Neurology, Leeds General Infirmary, Leeds, UK.ORCID 0000-0002-4017-0667
Julija PavaineAcademic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.ORCID 0000-0003-1843-837X
Edmund CheesmanDepartment of Paediatric Histopathology, Central Manchester University Foundation NHS Trust, Manchester, UK.
Stephania BitettiDepartment of Paediatric Histopathology, Central Manchester University Foundation NHS Trust, Manchester, UK.ORCID 0000-0001-7170-3836
Angela GraingerPrimary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Meghan AcresPrimary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Barbara A InnesPrimary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Aneta MikulasovaPrimary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Ruyue SunComplement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0003-3192-7290
Rafiqul HussainImmunobiology of Dendritic Cells, Institut Pasteur, Paris, France.
Ronnie WrightDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.ORCID 0000-0002-8532-4615
Robert WynnDepartment of Paediatric Blood and Marrow Transplant, Royal Manchester Children's Hospital, Oxford Rd., Manchester, UK.
Mohammed ZarhrateGenomics Core Facility, Institut Imagine, Paris, France.ORCID 0000-0001-5821-2629
Leo A H ZeefBioinformatics Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.ORCID 0000-0003-2833-7847
Katrina WoodDepartment of Pathology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Stephen M HughesImmunology Department, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.ORCID 0000-0001-5077-9065
Claire L HarrisComplement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0003-0845-1730
Karin R EngelhardtPrimary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0001-8513-9682
Yanick J CrowMRC Institute of Genetics and Molecular Medicine, Centre for Genomic and Experimental Medicine, The University of Edinburgh, Edinburgh, UK.
Richard E RandallSchool of Biology, University of St. Andrews, St. Andrews, UK.
David KavanaghComplement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0003-4718-0072
Sophie HambletonPrimary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK. christopher.duncan@ncl.ac.uk tracy.briggs@manchester.ac.uk sophie.hambleton@ncl.ac.uk.ORCID 0000-0001-7954-3267
Tracy A BriggsDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK. christopher.duncan@ncl.ac.uk tracy.briggs@manchester.ac.uk sophie.hambleton@ncl.ac.uk.ORCID 0000-0001-5208-2691
Institute of Infection and Immunity · CANewcastle University · GBUniversity of Manchester · GBInstitut Pasteur · FRNewcastle upon Tyne Hospitals NHS Foundation Trust · GBInstitut des Maladies Génétiques Imagine · FRManchester University NHS Foundation Trust · GBRoyal Manchester Children's Hospital · GBUniversity of St Andrews · GBDélégation Paris 5 · FRGenomics England · GBLeeds General Infirmary · GBManchester Academic Health Science Centre · GBRoyal Victoria Infirmary · GB
Funding
Department of Health TRF-2016-09-002European Research Council 309449Medical Research Council MC_PC_16054Medical Research Council MR/N013840/1Medical Research Council MR/R000913/1MRF_ MRF-159-0002-ELP-BRIGGWellcome Trust 101788Wellcome Trust 101788/Z/13/ZWellcome Trust 207556Wellcome Trust 207556/Z/17/ZWellcome Trust 211153Wellcome Trust 211153/Z/18/Z
Abstract
Excessive type I interferon (IFNα/β) activity is implicated in a spectrum of human disease, yet its direct role remains to be conclusively proven. We investigated two siblings with severe early-onset autoinflammatory disease and an elevated IFN signature. Whole-exome sequencing revealed a shared homozygous missense Arg148Trp variant in
Indexed as
Germ-Line MutationHumansImmune System DiseasesInfantInterferon Type IMaleSignal TransductionSTAT2 Transcription FactorInterferon Type ISTAT2 protein, humanSTAT2 Transcription Factor
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.