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Article

Inborn errors of human JAKs and STATs.

Immunity - 20 Apr 2012

Casanova Jean-Laurent, Holland Steven M, Notarangelo Luigi D

Abstract excerpt

Inborn errors of the genes encoding two of the four human JAKs (JAK3 and TYK2) and three of the six human STATs (STAT1, STAT3, and STAT5B) have been described. We review the disorders arising from mutations in these five genes, highlighting the way in which the molecular and cellular pathogenesis of these conditions has been clarified by the discovery of inborn errors of cytokines, hormones, and their receptors,...

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Source

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Identifiers

PMID: 22520845
DOI: 10.1016/j.immuni.2012.03.016
PMCID: PMC3334867

Genes

JAK3
STAT1
TYK2
STAT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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