article_metadata: Yifan Xie Fenli Shao Juan Lei Na Huang Zhidan Fan Haiguo Yu
article_metadata: 10.3389/fimmu.2022.928213
article_metadata: Front Immunol
article_metadata: 2022 Aug 29;13:928213.
article_metadata: stat1 gain-of-function mutation stat1 phosphorylation autoimmunity immunodeficiency pure red cell aplasia
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/36105803/
article_metadata: Autoimmune Diseases Primary Immunodeficiency Diseases / genetics Red-Cell Aplasia, Pure / genetics
article_metadata: Autoimmune Diseases Primary Immunodeficiency Diseases / genetics Red-Cell Aplasia, Pure / genetics Case Reports Research Support, Non-U.S. Gov't Autoimmunity / genetics Gain of Function Mutation Humans Leukocytes, Mononuclear / metabolism Mutation Nitriles Pyrazoles Pyrimidines STAT1 Transcription Factor / metabolism Syndrome Nitriles Pyrazoles Pyrimidines STAT1 Transcription Factor STAT1 protein, human ruxolitinib
article_metadata: PMC9464931
article_metadata: 36105803
article_metadata: Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia
article_metadata: 2022