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Article

Gain-of-function STAT1 mutations are associated with intracranial aneurysms.

Clinical immunology (Orlando, Fla.) - 1 May 2017

Dadak Mete, Jacobs Roland, Skuljec Jelena, Jirmo Adan Chari, Yildiz Özlem, Donnerstag Frank, Baerlecken Niklas Thomas, Schmidt Reinhold Ernst, Lanfermann Heinrich, Skripuletz Thomas, Schwenkenbecher Philipp, Kleinschnitz Christoph, Tumani Hayrettin, Stangel Martin, Pul Refik

Abstract excerpt

Chronic mucocutaneous candidiasis, characterized by persistent or recurrent fungal infections, represents the clinical hallmark in gain-of-function (GOF) signal transducer and activator of transcription 1 (STAT1) mutation carriers. Several cases of intracranial aneurysms have been reported in patients with GOF STAT1 mutation but the paucity of reported cases likely suggested this association still as serendipity....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Transforming Growth Factor-beta Type II

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Source

Identifiers

PMID: 28161409
DOI: 10.1016/j.clim.2017.01.012

Genes

STAT1
SMAD3
STAT4

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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