Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

doi:10.1016/j.jaci.2012.11.054

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Article

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

The Journal of allergy and clinical immunology - 1 Jun 2013

Uzel Gulbu, Sampaio Elizabeth P, Lawrence Monica G, Hsu Amy P, Hackett Mary, Dorsey Morna J, Noel Richard J, Verbsky James W, Freeman Alexandra F, Janssen Erin, Bonilla Francisco A, Pechacek Joseph, Chandrasekaran Prabha, Browne Sarah K, Agharahimi Anahita, Gharib Ahmed M, Mannurita Sara C, Yim Jae Joon, Gambineri Eleonora, Torgerson Troy, Tran Dat Q, Milner Joshua D, Holland Steven M

Abstract excerpt

BACKGROUND: Mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial infections (amorphic alleles) to mild disseminated mycobacterial disease (hypomorphic alleles) to chronic mucocutaneous candidiasis (CMC; hypermorphic alleles). The hypermorphic mutations are also associated with arterial aneurysms, autoimmunity, and...

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Identifiers

PMID: 23534974
DOI: 10.1016/j.jaci.2012.11.054
PMCID: PMC3672257

Genes

STAT1
FOXP3

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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