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Article

Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant.

Frontiers in immunology - 1 Jan 2022

Scott Ori, Sharfe Nigel, Dadi Harjit, Vong Linda, Garkaby Jenny, Abrego Fuentes Laura, Willett Pachul Jessica, Nelles Sandra, Nahum Amit, Roifman Chaim M

Abstract excerpt

Background: STAT1 gain-of-function (GOF) is a primary immune dysregulatory disorder marked by wide infectious predisposition (most notably chronic mucocutaneous Candidiasis), autoimmunity, vascular disease and malignant predisposition. While atopic features have been described in some STAT1 GOF patients, they are not considered a predominant feature of the disease. Additionally, while eosinophilic...

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Source

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Identifiers

PMID: 35126392
DOI: 10.3389/fimmu.2022.801832
PMCID: PMC8812721

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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