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A novel STAT4 gain-of-function variant defines a monogenic form of juvenile-onset systemic lupus erythematosus.

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Title: A novel STAT4 gain-of-function variant defines a monogenic form of juvenile-onset systemic lupus erythematosus.
Authors: Sormani J; Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, Auvergne-Rhône-Alpes, France; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France., Chenel A; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France., Conti EA; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France; University of Milan, Milan, Italy., Doutriaux C; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France., Jamilloux Y; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France; Internal Medicine Department, Croix-Rousse Hospital, Hospices Civils de Lyon, Lyon, Auvergne-Rhône-Alpes, France., Henry T; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France., Cognard J; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Hospices Civils de Lyon, Pediatric Nephrology, Rheumatology, Dermatology Unit, Mother and Children University Hospital, Bron, Auvergne-Rhône-Alpes, France., Walzer T; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France., Tusseau M; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France; Medical Genetics Department, Hospices Civils de Lyon, Bron, Auvergne-Rhône-Alpes, France., Chan OM; Department of Paediatrics, Prince of Wales Hospital, Hong Kong., Kwong HC; Department of Paediatrics, Prince of Wales Hospital, Hong Kong., Li AM; Department of Paediatrics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong., Chan KCC; Department of Paediatrics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong., Tang NLS; Department of Chemical Pathology, Li Ka Shing Institute of Health Science, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong., Chu WCW; Department of Imaging & Interventional Radiology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong., Au EYL; Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital, Hong Kong., Lam K; Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital, Hong Kong., Cheong KN; Division of Immunology, Rheumatology and Allergy, Paediatric and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong., Mathieu AL; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France., Ho ACH; Department of Paediatrics, Prince of Wales Hospital, Hong Kong., Belot A; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Hospices Civils de Lyon, Pediatric Nephrology, Rheumatology, Dermatology Unit, Mother and Children University Hospital, Bron, Auvergne-Rhône-Alpes, France. Electronic address: alexandre.belot@chu-lyon.fr.
Source: Annals of the rheumatic diseases [Ann Rheum Dis] 2026 Jul 16. Date of Electronic Publication: 2026 Jul 16.
Publication Type: Letter
Journal Info: Publisher: BMJ Country of Publication: United States NLM ID: 0372355 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2060 (Electronic) Linking ISSN: 00034967 NLM ISO Abbreviation: Ann Rheum Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel STAT4 gain-of-function variant defines a monogenic form of juvenile-onset systemic lupus erythematosus.
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  Data: <searchLink fieldCode="AU" term="%22Sormani+J%22">Sormani J</searchLink>; Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, Auvergne-Rhône-Alpes, France; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Chenel+A%22">Chenel A</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Conti+EA%22">Conti EA</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France; University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Doutriaux+C%22">Doutriaux C</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Jamilloux+Y%22">Jamilloux Y</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France; Internal Medicine Department, Croix-Rousse Hospital, Hospices Civils de Lyon, Lyon, Auvergne-Rhône-Alpes, France.<br /><searchLink fieldCode="AU" term="%22Henry+T%22">Henry T</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Cognard+J%22">Cognard J</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Hospices Civils de Lyon, Pediatric Nephrology, Rheumatology, Dermatology Unit, Mother and Children University Hospital, Bron, Auvergne-Rhône-Alpes, France.<br /><searchLink fieldCode="AU" term="%22Walzer+T%22">Walzer T</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Tusseau+M%22">Tusseau M</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France; Medical Genetics Department, Hospices Civils de Lyon, Bron, Auvergne-Rhône-Alpes, France.<br /><searchLink fieldCode="AU" term="%22Chan+OM%22">Chan OM</searchLink>; Department of Paediatrics, Prince of Wales Hospital, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Kwong+HC%22">Kwong HC</searchLink>; Department of Paediatrics, Prince of Wales Hospital, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Li+AM%22">Li AM</searchLink>; Department of Paediatrics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Chan+KCC%22">Chan KCC</searchLink>; Department of Paediatrics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Tang+NLS%22">Tang NLS</searchLink>; Department of Chemical Pathology, Li Ka Shing Institute of Health Science, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Chu+WCW%22">Chu WCW</searchLink>; Department of Imaging & Interventional Radiology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Au+EYL%22">Au EYL</searchLink>; Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Lam+K%22">Lam K</searchLink>; Division of Clinical Immunology, Department of Pathology, Queen Mary Hospital, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Cheong+KN%22">Cheong KN</searchLink>; Division of Immunology, Rheumatology and Allergy, Paediatric and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Mathieu+AL%22">Mathieu AL</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Ho+ACH%22">Ho ACH</searchLink>; Department of Paediatrics, Prince of Wales Hospital, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Belot+A%22">Belot A</searchLink>; Inserm U1111, CNRS, UMR5308, ENS of Lyon, Centre International de Recherche en Infectiologie (CIRI), Claude Bernard University Lyon 1, Lyon, France; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Hospices Civils de Lyon, Pediatric Nephrology, Rheumatology, Dermatology Unit, Mother and Children University Hospital, Bron, Auvergne-Rhône-Alpes, France. Electronic address: alexandre.belot@chu-lyon.fr.
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  Data: <searchLink fieldCode="JN" term="%220372355%22">Annals of the rheumatic diseases</searchLink> [Ann Rheum Dis] 2026 Jul 16. <i>Date of Electronic Publication: </i>2026 Jul 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BMJ%22">BMJ </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0372355 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-2060 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200034967%22">00034967 </searchLink><i>NLM ISO Abbreviation: </i>Ann Rheum Dis <i>Subsets: </i>MEDLINE
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