摘要STAT1是细胞多种信号传导途径相交叉的枢纽,STAT1基因突变导致的原发性免疫缺陷病分为四类:(1)常染色体隐性遗传STAT1完全缺陷；(2)常染色体隐性遗传STAT1部分缺陷；(3)常染色体显性遗传STAT1缺陷；(4)常染色体显性遗传STAT1功能增强性突变.其中前三种疾病发病机制主要与IFN-γ 、IFN-α/β信号通路受损有关,而最后一种疾病发病机制可能与IFN-α/β信号通路增强有关.该文就STAT1基因突变相关原发性免疫缺陷病的发病机制、临床表现及诊断治疗进行综述.

abstractsSTAT1 plays a central role in multiple intracellular signal transduction pathways.STAT1 gene mutations have led to four types primary immunodeficiency disease,including.autosomal recessive (AR) complete STAT1 deficiency,AR partial STAT1 deficiency,autosomal dominant (AD) STAT1 deficiency,and AD gain of STAT1 activity.The first three diseases due principally to the impairment of IFN-γ-mediated and/or IFN-α/β-mediated immunity.Different from common primary immunodeficiency diseases,AD gain of STAT1 function probably due to an enhancement of IFN-a/b-mediated immunity.This article reviews the pathogenesis,clinical manifestations,diagnosis and treatments of inborn errors of human STAT1 immunity.