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JOURNAL ARTICLE
RESEARCH SUPPORT, N.I.H., INTRAMURAL
REVIEW
An Update on Syndromes with a Hyper-IgE Phenotype.
Immunology and Allergy Clinics of North America 2019 Februrary
Improvement in genetic testing has allowed specific delineation of several distinct clinical causes characterized by the hyperimmunoglobulin E (IgE) phenotype of eczema, recurrent infections, and elevated serum IgE. Mutations in STAT3, DOCK8, PGM3, ERBIN, IL6ST, and CARD11 cause clinical phenotypes that can present in this manner. This article focuses on loss of function STAT3 mutations causing autosomal-dominant hyper-IgE syndrome and dedicator of cytokinesis 8 deficiency, with discussion of other more recently described diseases.
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