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Article

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

Journal of clinical immunology - 1 May 2014

Sundin Mikael, Tesi Bianca, Sund Böhme Maria, Bryceson Yenan T, Pütsep Katrin, Chiang Samuel C, Thunberg Sarah, Winiarski Jacek, Wikström Ann-Charlotte

Abstract excerpt

PURPOSE: Reporting a clinical case with a novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene resulting in autosomal dominant hyper-immunoglobulin E syndrome (AD-HIES). Here we also had the opportunity to perform in-depth immunologic investigations to further understand the immunopathology of this primary immunodeficiency. METHODS: The patient, a baby boy, was clinically assessed...

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Identifiers

PMID: 24627079
DOI: 10.1007/s10875-014-0011-x

Genes

STAT3

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Novel STAT3 mutation causing hyper-IgE syndrome: studies of the clinical course and immunopathology.PMID 24627079Read ↗

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

Hyperimmunoglobulin E syndrome with a novel STAT3 mutation.Semantic proximity Read ↗

The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutationsSemantic proximity Read ↗

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