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

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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
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  Data: A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.
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  Data: <searchLink fieldCode="AU" term="%22Stremenova+Spegarova+J%22">Stremenova Spegarova J</searchLink>; Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sinnappurajar+P%22">Sinnappurajar P</searchLink>; Department of Paediatric Rheumatology, Bristol Royal Hospital for Children, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Al+Julandani+D%22">Al Julandani D</searchLink>; Department of Paediatric Rheumatology, Bristol Royal Hospital for Children, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Navickas+R%22">Navickas R</searchLink>; Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Griffin+H%22">Griffin H</searchLink>; Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ahuja+M%22">Ahuja M</searchLink>; Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Grainger+A%22">Grainger A</searchLink>; Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Livingstone+K%22">Livingstone K</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Rice+GI%22">Rice GI</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sutherland+F%22">Sutherland F</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hayes+C%22">Hayes C</searchLink>; Department of Paediatrics and.<br /><searchLink fieldCode="AU" term="%22Parke+S%22">Parke S</searchLink>; Department of Paediatrics and.<br /><searchLink fieldCode="AU" term="%22Pang+L%22">Pang L</searchLink>; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Roderick+MR%22">Roderick MR</searchLink>; Department of Paediatric Immunology, Bristol Royal Hospital for Children, Bristol, United Kingdom.; Translational Health Sciences, University of Bristol, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Slatter+M%22">Slatter M</searchLink>; Great North Children's Hospital, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Crow+Y%22">Crow Y</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ramanan+AV%22">Ramanan AV</searchLink>; Department of Paediatric Rheumatology, Bristol Royal Hospital for Children, Bristol, United Kingdom.; Translational Health Sciences, University of Bristol, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hambleton+S%22">Hambleton S</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%227802877%22">The Journal of clinical investigation</searchLink> [J Clin Invest] 2024 May 16; Vol. 134 (13). <i>Date of Electronic Publication: </i>2024 May 16.
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