A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.

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Bibliographic Details
Title: A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.
Authors: Stremenova Spegarova J; Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom., Sinnappurajar P; Department of Paediatric Rheumatology, Bristol Royal Hospital for Children, Bristol, United Kingdom., Al Julandani D; Department of Paediatric Rheumatology, Bristol Royal Hospital for Children, Bristol, United Kingdom., Navickas R; Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom., Griffin H; Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom., Ahuja M; Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom., Grainger A; Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom., Livingstone K; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom., Rice GI; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom., Sutherland F; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom., Hayes C; Department of Paediatrics and., Parke S; Department of Paediatrics and., Pang L; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Roderick MR; Department of Paediatric Immunology, Bristol Royal Hospital for Children, Bristol, United Kingdom.; Translational Health Sciences, University of Bristol, Bristol, United Kingdom., Slatter M; Great North Children's Hospital, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom., Crow Y; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom., Ramanan AV; Department of Paediatric Rheumatology, Bristol Royal Hospital for Children, Bristol, United Kingdom.; Translational Health Sciences, University of Bristol, Bristol, United Kingdom., Hambleton S; Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.; Great North Children's Hospital, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.
Source: The Journal of clinical investigation [J Clin Invest] 2024 May 16; Vol. 134 (13). Date of Electronic Publication: 2024 May 16.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1558-8238
DOI:10.1172/JCI179193