Yifan Xie Fenli Shao Juan Lei Na Huang Zhidan Fan Haiguo Yu
10.3389/fimmu.2022.928213
Front Immunol
2022 Aug 29;13:928213.
stat1 gain-of-function mutation stat1 phosphorylation autoimmunity immunodeficiency pure red cell aplasia
CC BY
https://pubmed.ncbi.nlm.nih.gov/36105803/
Autoimmune Diseases Primary Immunodeficiency Diseases / genetics Red-Cell Aplasia, Pure / genetics
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
PMC9464931
36105803
Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia
2022