Article
Systems Immunology Analyses of STAT1 Gain-of-Function Immune Phenotypes Reveal Heterogeneous Response to IL-6 and Broad Immunometabolic Roles for STAT1.
ImmunoHorizons - 15 Jul 2022
Kaviany Saara, Bartkowiak Todd, Dulek Daniel E, Khan Yasmin W, Hayes Madeline J, Schaefer Samuel G, Ye Xiang, Dahunsi Debolanle O, Connelly James A, Irish Jonathan M, Rathmell Jeffrey C
Abstract excerpt
Patients with STAT1 gain-of-function (GOF) pathogenic variants have enhanced or prolonged STAT1 phosphorylation following cytokine stimulation and exhibit increased yet heterogeneous susceptibility to infections, autoimmunity, and cancer. Although disease phenotypes are diverse and other genetic factors contribute, how STAT1 GOF affects cytokine sensitivity and cell biology remains poorly defined. In this study,...
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