›› 2014, Vol. 32 ›› Issue (1): 88-91.

• Original Article • Previous Articles     Next Articles

Hyper-IgE syndrome: recent progress in diagnosis and treatment Reviewer: LI Chunxiao, Reviser: YU Hong (Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China)

  

  • Received:2013-10-08 Online:2014-01-15 Published:2014-01-15

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.