immunology allergic disorders
Hyper IgE Syndrome
Introduction
Hyper-IgE syndrome is a hereditary combined B- and T-cell immunodeficiency characterized by recurrent staphylococcal abscesses of the skin, sinopulmonary infections, and severe pruritic eosinophilic dermatitis. Diagnosis is confirmed by measurement of serum IgE levels. Treatment consists of supportive measures, including lifelong prophylactic antistaphylococcal antibiotics. (See also Overview of Immunodeficiency Disorders and Hyper-IgE syndrome is a Primary Immunodeficiencies that involves Autosomal dominant: Caused by mutations in theSTAT3(signal transducer and activator of transcription 3) gene Autosomal recessive: Appears to be caused by homozygous null mutations inTYK2(tyrosine kinase 2) orDOCK8(dedicator of cytokinesis 8) genes Hyper-IgE syndrome starts during infancy. Patients with hyper-IgE syndrome have tissue and blood eosinophilia and very high IgE levels (>2000 IU/mL [>4800 mcg/L]). The elevated IgE is thought to be a secondary phenomenon rather than pathogenic. Various mutations may result in hyper-IgE syndrome, but most result in an alteration of class switching and dysfunctional helper type 17 (Th17) differentiation and alteration of immunoglobulin class switching in activated B cells. 