Marcos Igor Albanaz Vargas, Lucas Albanaz Vargas, Giuseppe Muccini de Carvalho Cavalcanti Fernandes, Eunilson Alves de Lima Junior
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引用次数: 0
摘要
简介高IgE综合征(HIES)是一种罕见的免疫系统疾病,以终生受到各种感染为特征。该综合征可分为两种类型,一种是与 STAT3 基因突变有关的显性杂合子,另一种是隐性同合子,还可细分为与 Tyk2 和 DOCK8 基因突变有关的两组,临床表现各不相同。虽然一些症状、临床因素和遗传因素可以帮助诊断,但诊断还是以基因测序为基础。目前还没有治疗这种病症的特效药,主要是控制感染和静脉注射免疫球蛋白 G 等免疫疗法。
Introduction: Hyper IgE syndrome (HIES) is a rare condition of the immune system characterized by various types of infections throughout life. This syndrome can be divided into two types, dominant heterozygous related to STAT3 gene mutation and recessive homozygous, which can also be subdivided into two groups related to Tyk2 and DOCK8 gene mutations, each presenting variations in their clinical presentations. Diagnosis is based on genetic sequencing, although there are some symptoms, clinical factors, and hereditary factors that can assist in diagnosis. There is no specific treatment for this pathology, with the main focus being on controlling infections and infusing immunological therapies such as intravenous immunoglobulin G.