Article

<i>STAT1</i> Gain-of-Function Variants Drive Altered T Cell Prevalence, Metabolism, and Heightened IL-6 Sensitivity

2021-11-12

Abstract excerpt

Patients with Signal Transducer and Activator of Transcription 1 ( STAT1 ) gain-of-function (GOF) pathogenic variants exhibit susceptibility to infections, autoimmunity, and cancer due to enhanced or prolonged STAT1 phosphorylation following cytokine stimulation. While interferons (IFNs) are canonical STAT1 activators, other cytokines that may also contribute to pathology in STAT1 GOF patients have been less wel...

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Literature Corpus work: c0a6c123-3a2c-5b20-a2c4-181ae3f0e4c8
DOI: 10.1101/2021.11.10.468135

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