JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

ABSTRACT: The JAK-STAT signaling pathway (Janus Kinase-Signal Transducer and Activator of Transcription) is a crucial molecular cascade that regulates immune responses, cell proliferation, and hematopoiesis. Germline or somatic mutations affecting this pathway leads to a wide range of pathologies, from severe immunodeficiencies to inflammatory and autoimmune diseases, as well as hematologic malignancies. Loss-of-function mutations impair cytokine signaling and primarily result in immunodeficiency, while gain-of-function mutations cause excessive pathway activation, promoting autoimmune diseases and myeloproliferative syndromes. Advances in our understanding of the JAK-STAT pathway and its involvement in various diseases have opened new perspectives in precision medicine and targeted therapies includ

SUBMITTER: Djidjik R 

PROVIDER: S-EPMC12719510 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature