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Article

Signal Transducer and Activator of Transcription 3 (STAT3) Variant p.K709N Causes Hyper-IgE Syndrome Likely by Impaired STAT3-Dimer Formation.

European journal of immunology - 1 Jul 2025

Hagl Beate, Spielberger Benedikt D, Neumann Betina, Pelham Simon J, Pandey Dharmendra, Schlundt Andreas, Barro Camille, Lechner Anica, Wolf Christine, Deenick Elissa K, Sattler Michael, Tangye Stuart G, Rothenfusser Simon, Renner Ellen D

Abstract excerpt

STAT3-hyper-IgE syndrome (STAT3-HIES) is an inborn error of immunity caused by heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3). In this study, we evaluate the functional relevance of a previously undescribed heterozygous STAT3 variant in a patient with clinical findings of STAT3-HIES. Flow cytometry, quantitative real-time PCR, pull-down assays, native...

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Share to STAT3 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40878953
DOI: 10.1002/eji.70015
PMCID: PMC12304596

Genes

STAT3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Signal Transducer and Activator of Transcription 3 (STAT3) Variant p.K709N Causes Hyper-IgE Syndrome Likely by Impaired STAT3-Dimer Formation.PMID 40878953Read ↗

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