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Article

STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.

Journal of leukocyte biology - 1 Jan 2017

Lorenzini Tiziana, Dotta Laura, Giacomelli Mauro, Vairo Donatella, Badolato Raffaele

Abstract excerpt

STAT proteins are a family of transcription factors that mediate cellular response to cytokines and growth factors. Study of patients with familial susceptibility to pathogens and/or autoimmune diseases has led to the identification of 7 inherited disorders that are caused by mutations of 4 STAT family genes. Homozygous or compound heterozygous mutations of STAT1 lead to complete or partial forms of STAT1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27803128
DOI: 10.1189/jlb.5RI0516-237RR

Genes

STAT1
STAT3
STAT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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