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Article

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes.

Current opinion in immunology - 1 Aug 2012

Boisson-Dupuis Stephanie, Kong Xiao-Fei, Okada Satoshi, Cypowyj Sophie, Puel Anne, Abel Laurent, Casanova Jean-Laurent

Abstract excerpt

The genetic dissection of various human infectious diseases has led to the definition of inborn errors of human STAT1 immunity of four types, including (i) autosomal recessive (AR) complete STAT1 deficiency, (ii) AR partial STAT1 deficiency, (iii) autosomal dominant (AD) STAT1 deficiency, and (iv) AD gain of STAT1 activity. The two types of AR STAT1 defect give rise to a broad infectious phenotype with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22651901
DOI: 10.1016/j.coi.2012.04.011
PMCID: PMC3477860

Genes

STAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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