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A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.
Stremenova Spegarova, Jarmila; Sinnappurajar, Praisoody; Al Julandani, Dalila; Navickas, Rokas; Griffin, Helen; Ahuja, Manisha; Grainger, Angela; Livingstone, Katie; Rice, Gillian I; Sutherland, Fraser; Hayes, Corinne; Parke, Simon; Pang, Lewis; Roderick, Marion R; Slatter, Mary; Crow, Yanick; Ramanan, Athimalaipet V; Hambleton, Sophie.
Affiliation
  • 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.
  • Slatter M; Translational Health Sciences, University of Bristol, Bristol, United Kingdom.
  • Crow Y; Great North Children's Hospital, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.
  • Ramanan AV; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.
  • Hambleton S; Department of Paediatric Rheumatology, Bristol Royal Hospital for Children, Bristol, United Kingdom.
J Clin Invest ; 134(13)2024 May 16.
Article in En | MEDLINE | ID: mdl-38753439
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Toll-Like Receptor 7 / Gain of Function Mutation / Lupus Erythematosus, Systemic Limits: Female / Humans / Infant / Male Language: En Journal: J Clin Invest / J. clin. invest / Journal of clinical investigation Year: 2024 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Toll-Like Receptor 7 / Gain of Function Mutation / Lupus Erythematosus, Systemic Limits: Female / Humans / Infant / Male Language: En Journal: J Clin Invest / J. clin. invest / Journal of clinical investigation Year: 2024 Document type: Article Affiliation country: Country of publication: