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Phenotypes of STAT3 gain-of-function variant related to disruptive regulation of CXCL8/STAT3, KIT/STAT3, and IL-2/CD25/Treg axes.

Immunologic research - 1 Oct 2021

Marega Lia Furlaneto, Sabino Janine Schincariol, Pedroni Marcus Vinicius, Teocchi Marcelo, Lanaro Carolina, de Albuquerque Dulcinéia Martins, Dos Santos Irene Pereira, Costa Fernando Ferreira, Dos Santos Vilela Maria Marluce

Abstract excerpt

STAT3 is a cytokine-signaling transcription factor critical for gene regulation. Gain-of-function (GOF) mutations in STAT3 are associated with lymphoproliferation, autoimmune cytopenias, increased susceptibility to infection, early-onset solid-organ autoimmunity, short stature, and eczema. We studied the JAK/STAT signaling pathway gene expression and the cytokine profile in two families carrying STAT3-GOF...

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PMID: 34390446
DOI: 10.1007/s12026-021-09225-0

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