The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice

IntroductionHumans with gain-of-function (GOF) mutations in STAT1 (Signal Transducer and Activator of Transcription 1), a potent immune regulator, experience frequent infections. About one-third, especially those with DNA-binding domain (DBD) mutations such as T385M, also develop autoimmunity, somet...

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Bibliographic Details
Main Authors: Ori Scott, Shagana Visuvanathan, Emily Reddy, Deeqa Mahamed, Bin Gu, Chaim M. Roifman, Ronald D. Cohn, Cynthia J. Guidos, Evgueni A. Ivakine
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Immunology
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Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1183273/full