高IgE综合征诊疗进展  

Hyper-IgE syndrome:recent progress in diagnosis and treatment

作　　者：李春晓[1] 余红[1] 

机构地区：[1]上海交通大学医学院附属新华医院皮肤科,上海200092

出　　处：《临床儿科杂志》2014年第1期88-91,共4页Journal of Clinical Pediatrics

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。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.

关 键 词：高IGE综合征 STAT3基因lTYK2基因 DOCK8基因 

分 类 号：R758.2[医药卫生—皮肤病学与性病学]