Autosomal Dominant Hyper IgE Syndrome
Autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES)(OMIM#147060), also known as Job’s syndrome, is a primary immunodeficiency characterized by elevated immunoglobulin E (IgE), eczema, infections, and multiple connective tissue, skeletal, and vascular abnormalities. First described in 1966 by Davis et al., it was initially characterized by the triad of eosinophilia, eczema, and recurrent skin and pulmonary infections (Davis et al. 1966). Shortly thereafter, in 1972, Buckley et al. recognized that an elevated IgE levels was a part of this clinical spectrum, giving rise to the name hyperimmunoglobulin E syndrome. Dominant-negative heterozygous mutations in signal transducer and activator of transcription 3 (STAT3) were identified in 2007 as the link between recurrent infections and connective tissue abnormalities (Holland et al. 2007; Minegishi et al. 2007). Many cases are sporadic, but when familial, all...
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