Article

Inherited <i>STAT3</i> mutation mediates familial autoimmune disease, leukemogenesis, and responses to immunomodulator

2025-07-10

Abstract excerpt

Germline activating mutations in STAT 3 result in immune dysregulation, autoimmunity, and increased malignancy risk, yet the precise molecular mechanisms underlying disease heterogeneity remain unclear. We identified a familial germline STAT 3 p.R278H mutation shared between the parent diagnosed with T-cell large granular lymphocytic leukemia and the proband presenting with infantile-onset multisystem autoimmune d...

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Literature Corpus work: f0e2b1da-fe75-5b36-9d22-8896c396e579
DOI: 10.1101/2025.07.08.25331118

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