高IgE综合征不同基因突变类型的临床研究现状

摘要

高IgE综合征(hyper-IgE syndrome,HIES)是一种以血浆IgE水平增高,而其他免疫球蛋白(IgG、IgA和IgM)正常为特征的原发性免疫缺陷性疾病.研究证实,基因突变是导致HIES发病的主要原因.目前已报道的HIES基因突变有三种,分别是STAT3、DOCK8和Tyk2基因突变,而不同的基因突变导致的临床症状不尽相同.因此,探讨不同类型HIES基因突变导致的临床表现,不仅对临床诊断及治疗评估有重要意义,而且对科学研究有指导作用.%Hyper-IgE syndrome (HIES)is a complex primary immunodeficiency characterized by extremely high serum IgE levels, while presented a normal level of other immunoglobulins (IgG, IgA and IgM).Recent studies demonstrated that gene mutations, namely STAT3,Tyk2 or DOCK8 gene mutations, are the main mechanism of HIES.The clinical manifestations in HIES are significantly different in patients with different gene mutation.Therefore, investigation of the clinical manifestations caused by various gene mutations is very important, because it is beneficial not only for the clinical diagnosis and therapeutic evaluation, but also for scientific research.