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Article

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.

Nature - 30 Aug 2007

Minegishi Yoshiyuki, Saito Masako, Tsuchiya Shigeru, Tsuge Ikuya, Takada Hidetoshi, Hara Toshiro, Kawamura Nobuaki, Ariga Tadashi, Pasic Srdjan, Stojkovic Oliver, Metin Ayse, Karasuyama Hajime

Abstract excerpt

Hyper-immunoglobulin E syndrome (HIES) is a compound primary immunodeficiency characterized by a highly elevated serum IgE, recurrent staphylococcal skin abscesses and cyst-forming pneumonia, with disproportionately milder inflammatory responses, referred to as cold abscesses, and skeletal abnormalities. Although some cases of familial HIES with autosomal dominant or recessive inheritance have been reported, most...

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Source

Identifiers

PMID: 17676033
DOI: 10.1038/nature06096

Genes

STAT3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.PMID 17676033Read ↗

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A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome.Semantic proximity Read ↗

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Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.Semantic proximity Read ↗

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