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Article

[STAT3 mutation in a child with hyper-IgE syndrome and incomplete clinical features].

Przeglad lekarski - 1 Jan 2015

Szaflarska Anna, Rutkowska-Zapała Magdalena, Pituch-Noworolska Anna, Siedlar Maciej

Abstract excerpt

We described mutation of STAT3 gene, typical for autosomal dominant hiperimmunoglobulin E syndrome (HIES), in a child with recurrent skin abscesses and respiratory tract infections without skeletal and connective tissue anomalies.

Read the complete abstract on PubMed

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Source

Identifiers

PMID: 27024962

Genes

STAT3

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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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[STAT3 mutation in a child with hyper-IgE syndrome and incomplete clinical features].PMID 27024962Read ↗

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[Dominant negative STAT-3 mutations in hyper-IgE syndrome].Semantic proximity Read ↗

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

Hyper-IgE syndrome with a novel mutation of the STAT3 gene.Semantic proximity Read ↗

A novel STAT3 mutation associated with hyper immunoglobulin E syndrome with a paucity of connective tissue signs.Semantic proximity Read ↗

[Hyper-IgE syndrome. Lessons from function and defects of STAT-3 or DOCK-8].Semantic proximity Read ↗

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

Identification of a novel STAT3 mutation in a patient with hyper-IgE syndrome.Semantic proximity Read ↗

Hyper-IgE syndrome with a novel STAT3 mutation-a single center study from India.Semantic proximity Read ↗

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

Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology.Semantic proximity Read ↗

STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with orofacial granulomatosis-like disease.Semantic proximity Read ↗

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