STAT1 mutations associated with primary immunodeficiency diseases / 国际儿科学杂志

ABSTRACT

STAT1 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.