An Update on Syndromes with a Hyper-IgE Phenotype

Abstract

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.

Keywords: Autosomal dominant hyper-IgE syndrome; Autosomal recessive hyper-IgE syndrome; Dedicator of cytokinesis 8; ERBB2-interacting protein; Job’s syndrome; Phosphoglucomutase 3; Signal transducer and activator of transcription 3.