Article

Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF Syndrome

2024-12-13

Abstract excerpt

Signal transduction downstream of activating stimuli controls CD8+ T cell biology, however these external inputs can become uncoupled from transcriptional regulation in Primary Immune Regulatory Disorders (PIRDs). Gain-of-function (GOF) variants in STAT3 amplify cytokine signaling and cause a severe PIRD characterized by early onset autoimmunity, lymphoproliferation, recurrent infections, and immune dysregulation....

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Literature Corpus work: b5f794b1-83de-5bc0-aae0-8aac43445fb3
DOI: 10.1101/2024.12.12.626682

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