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Article

Novel Partial Loss-of-function STAT3-variant as Cause of Hyper-IgE-Syndrome in a Danish Family with Variable Expressivity.

Journal of clinical immunology - 8 Jun 2026

Drabe Camilla Heldbjerg, Gehrig Jonathan, Jensen Jens Magnus Bernth, Laustsen Mira Marie, Larsen Carsten Schade, Sørensen Camilla Darum, Dyrmose Kirstine Overgaard, Hammer-Hansen Sophia, Wittner Jens, Masmas Tania, Marquart Hanne, Ehl Stephan, Borgwardt Line, Katzenstein Terese L

Abstract excerpt

A novel heterozygous missense variant in STAT3 (NM_139276.3: c.1250G > C, NP_644805.1: p.(Arg417Thr) was identified in a Danish family spanning five generations with diverse phenotypes consistent with autosomal dominant STAT3-Hyper-IgE-Syndrome (STAT3-HIES). Genetic analysis confirmed the absence of the variant in population databases, and computational predictions of pathogenicity were conflicting. Functional...

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Source

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Identifiers

PMID: 42257793
DOI: 10.1007/s10875-026-02036-8
PMCID: PMC13461928

Genes

STAT3
TNF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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