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Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.

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Title: Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
Authors: Duncan CJA; Primary 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.; Department of Infection and Tropical Medicine, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Thompson BJ; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Chen R; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Rice GI; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK., Gothe F; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany., Young DF; School of Biology, University of St. Andrews, St. Andrews, UK., Lovell SC; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK., Shuttleworth VG; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Brocklebank V; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Corner B; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Skelton AJ; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Bondet V; Immunobiology of Dendritic Cells, Institut Pasteur, Paris, France., Coxhead J; Genomics Core Facility, Biosciences Institute, Newcastle University, UK., Duffy D; Immunobiology of Dendritic Cells, Institut Pasteur, Paris, France., Fourrage C; Plateforme Bioinformatique, Institut Imagine, Paris, France., Livingston JH; Department of Paediatric Neurology, Leeds General Infirmary, Leeds, UK., Pavaine J; Academic Unit of Paediatric Radiology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Division of Informatics, Imaging and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Cheesman E; Department of Paediatric Histopathology, Central Manchester University Foundation NHS Trust, Manchester, UK., Bitetti S; Department of Paediatric Histopathology, Central Manchester University Foundation NHS Trust, Manchester, UK., Grainger A; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Acres M; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Innes BA; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Mikulasova A; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Sun R; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Hussain R; Immunobiology of Dendritic Cells, Institut Pasteur, Paris, France., Wright R; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Wynn R; Department of Paediatric Blood and Marrow Transplant, Royal Manchester Children's Hospital, Oxford Rd., Manchester, UK., Zarhrate M; Genomics Core Facility, Institut Imagine, Paris, France., Zeef LAH; Bioinformatics Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Wood K; Department of Pathology, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Hughes SM; Immunology Department, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Harris CL; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Engelhardt KR; Primary Immunodeficiency Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK., Crow YJ; MRC Institute of Genetics and Molecular Medicine, Centre for Genomic and Experimental Medicine, The University of Edinburgh, Edinburgh, UK.; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France.; Paris Descartes University, Sorbonne-Paris-Cité, Paris, France., Randall RE; School of Biology, University of St. Andrews, St. Andrews, UK., Kavanagh D; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; National Renal Complement Therapeutics Centre, Royal Victoria Infirmary, Newcastle upon Tyne Hosptials NHS Foundation Trust, Newcastle upon Tyne, UK., Hambleton S; Primary 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.; Children's Immunology Service, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Briggs TA; Division 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.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Source: Science immunology [Sci Immunol] 2019 Dec 13; Vol. 4 (42).
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101688624 Publication Model: Print Cited Medium: Internet ISSN: 2470-9468 (Electronic) Linking ISSN: 24709468 NLM ISO Abbreviation: Sci Immunol Subsets: MEDLINE
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  Data: Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
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MRC Institute of Genetics and Molecular Medicine, Centre for Genomic and Experimental Medicine, The University of Edinburgh, Edinburgh, UK.; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France.; Paris Descartes University, Sorbonne-Paris-Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Randall+RE%22">Randall RE</searchLink>; School of Biology, University of St. Andrews, St. Andrews, UK.<br /><searchLink fieldCode="AU" term="%22Kavanagh+D%22">Kavanagh D</searchLink>; Complement Therapeutics Research Group, Immunity and Inflammation Theme, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; National Renal Complement Therapeutics Centre, Royal Victoria Infirmary, Newcastle upon Tyne Hosptials NHS Foundation Trust, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Hambleton+S%22">Hambleton S</searchLink>; Primary 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.; 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