DNA修复缺陷导致的原发性免疫缺陷病

DNA repair defects in primary immunodeficiency diseases

DNA修复缺陷是一类伴典型特征的联合免疫缺陷综合征,包括ATM、MRE11、NBS1、BLM、RNF168、DNMT3B、ZBTB24、PMS2、MCM4共9个基因缺陷导致的8种疾病,此类疾病都是常染色体隐性遗传,且多数为单基因遗传病,免疫缺陷程度不等.现主要综述这些疾病的发病机制、临床表现、免疫表型及诊断现状.

DNA repair defects are classified as combined immunodeficiencies with associated or syndromic features,including 8 kinds of diseases with mutation of 9 pathogenic gene （ATM,MRE11,NBS1,BLM,RNF168,DNMT3B,ZBTB24,PMS2,MCM4）,which are mainly autosomal recessive and monogenic inheritance.This article mainly reviews the pathogenesis,clinical manifestation,immunophenotype,and diagnosis of these diseases.