Hyper-IgE syndromes

Abstract

A hyper-IgE syndrome is a rare immunodeficiesncy disease, often accompanied by high serum IgE. It often characterized by facial features, repeated skin infections, eczema and pulmonary infection, including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). AR-HIES is caused by mutations in STAT3, which is presented as connective tissue, bone, vascular disease, and high brain white matter signal. AD-HIES is mainly caused by mutations in DOCK8 and TYK2, which is presented as severe viral infection and poor prognosis. The treatment for Hyper-IgE syndromes is mainly to control infection, skin care and other symptomatic treatment, if necessary, should be done as early as possible hematopoietic stem cell transplantation. This article reviews the clinical manifestations, pathogenesis and treatment of high IgE syndrome.