›› 2014, Vol. 32 ›› Issue (1): 88-91.
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Abstract: The hyper-IgE syndrome (HIES) is a complex and rare primary immune deficiency characterized by eczema and extremely elevated IgE serum level as well as recurrent skin and pulmonary infections. There are two forms of this disease: the autosomal dominant form (AD-HIES) which is associated with STAT3 mutation and the autosomal recessive form (AR-HIES) which is caused by TYK-2 or DOCK8 mutation. There are differences in pathogenesis, clinical manifestations, treatment and prognosis between AD-HIES and AR-HIES. This review will focus on genetic characteristics, pathogenesis, clinical manifestations, diagnosis and treatment of HIES.
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