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Article

Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.

The Journal of allergy and clinical immunology - 1 Jun 2013

Hsu Amy P, Sowerwine Kathryn J, Lawrence Monica G, Davis Joie, Henderson Carolyn J, Zarember Kol A, Garofalo Mary, Gallin John I, Kuhns Douglas B, Heller Theo, Milner Joshua D, Puck Jennifer M, Freeman Alexandra F, Holland Steven M

Abstract excerpt

BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is caused by mutations in signal transducer and activator of transcription 3 (STAT3). We describe 2 subjects in whom somatic mosaicism was associated with intermediate phenotypes. OBJECTIVE: Somatic mosaics might shed light on the pathogenesis of dominant STAT3 mutations and the mechanisms behind the immunologic and nonimmunologic features of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23623265
DOI: 10.1016/j.jaci.2013.02.038
PMCID: PMC4103905

Genes

STAT3

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