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Article

Variable clinical expressivity of STAT3 mutation in hyperimmunoglobulin E syndrome: genetic and clinical studies of six patients.

Journal of clinical immunology - 1 Feb 2014

Wolach Ofir, Kuijpers Taco, Ben-Ari Josef, Gavrieli Ronit, Feinstein-Goren Neta, Alders Marielle, Garty Ben Zion, Wolach Baruch

Abstract excerpt

BACKGROUND AND PURPOSE: Autosomal dominant Hyper IgE syndrome (AD-HIES) is a rare and complex primary immunodeficiency that affects multiple systems. Mutations in signal transducer and activator of transcription 3 (STAT3) gene cause AD-HIES. These mutations have a dominant-negative effect and the presence of such mutations is associated with a clinical phenotype. We aim to describe genetic and clinical...

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Source

Identifiers

PMID: 24452316
DOI: 10.1007/s10875-014-9988-4

Genes

STAT3

Variants

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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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