高IgE综合征诊疗进展

摘要/Abstract

摘要：

　高IgE综合征是一种罕见而复杂的原发性免疫缺陷病，临床以顽固湿疹样皮疹、反复细菌感染引起的皮肤及肺部脓肿，并伴有血清IgE水平显著升高为特征。本病可分为2型，I型为常染色体显性遗传，为STAT3基因突变所致；Ⅱ型为常染色体隐性遗传，为TYK-2或DOCK8基因突变所致。两型的发病机制、临床表现、治疗及预后存在差异。文章综述高IgE综合征遗传特点及发病机制、临床表现、诊断及治疗。

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.

李春晓综述余红审校. 高IgE综合征诊疗进展[J]. 临床儿科杂志, 2014, 32(1): 88-91.

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