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- W4313380088 abstract "Abstract The signal transducer and activator of transcription (STAT) family of transcription factors play a critical role in regulating gene expression required for immune development and function. In a patient diagnosed with primary immunodeficiency characterized by chronic lymphadenopathy, splenomegaly, immune thrombocyotopenia and necrotizing granulomas, we discovered a heterozygous missense mutation in STAT5B (c.617A>G, p.Q206R). Cotransfection of Q206R and wild-type STAT5B in HEK293 cells reduced STAT5B-mediated transcriptional activity compared to wild-type STAT5B alone, suggesting that Q206R STATB dominantly-interfered with wild-type STAT5B function. Patient T cell blasts exhibited reduced phosphorylation of STAT5B in response to IL-2, IL-7 and IL-15 compared to healthy controls. Further, IL-2/STAT5-dependent gene transcription was impaired in patient T cell blasts. The patient exhibited increased lymphocytes (as well as monocytes and neutrophils) in the peripheral blood associated with a higher frequency and number of CD4+ T effector memory cells (TEMs). Further, CD4+ TEMs isolated from the patient were resistant to restimulation-induced cell death compared to healthy control TEMs in vitro. Collectively, these data suggest that the Q206R STAT5B variant reduced IL-2/STAT5B-mediated gene expression in human T cells, and defects in this signaling pathway are associated with increased survival of TEMs, disrupted immune homeostasis and disease." @default.
- W4313380088 created "2023-01-06" @default.
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- W4313380088 date "2017-05-01" @default.
- W4313380088 modified "2023-10-16" @default.
- W4313380088 title "A heterozygous mutation in the coiled-coil domain of STAT5B is associated with immune deficiency and dysfunction" @default.
- W4313380088 doi "https://doi.org/10.4049/jimmunol.198.supp.59.5" @default.
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