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Article

A novel STAT1 mutation associated with disseminated mycobacterial disease.

Journal of clinical immunology - 1 Aug 2012

Sampaio Elizabeth P, Bax Hannelore I, Hsu Amy P, Kristosturyan Ervand, Pechacek Joseph, Chandrasekaran Prabha, Paulson Michelle L, Dias Dalton L, Spalding Christine, Uzel Gulbu, Ding Li, McFarland Elizabeth, Holland Steven M

Abstract excerpt

STAT1 is a key component of Interferon (IFN)-γ and IFN-α signaling and mediates protection against mycobacteria, fungal, viral infections, and cancer. Dominant negative inhibitory as well as gain of function heterozygous STAT1 mutations demonstrate that IFN-γ driven cellular responses need to be tightly regulated to control infections. We describe an autosomal dominant mutation in the SH2 domain of STAT1 that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mycobacterium avium Complex

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Source

Open in PubMed Open full text

Identifiers

PMID: 22437822
DOI: 10.1007/s10875-012-9659-2
PMCID: PMC4112946

Genes

STAT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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