中华实用儿科临床杂志
中華實用兒科臨床雜誌
중화실용인과림상잡지
Journal of Applied Clinical Pediatrics
2015年
8期
638-640
,共3页
DNA修复缺陷%联合免疫缺陷%基因突变
DNA脩複缺陷%聯閤免疫缺陷%基因突變
DNA수복결함%연합면역결함%기인돌변
DNA repair defect%Combined immunodeficiencies%Gene mutation
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脩複缺陷是一類伴典型特徵的聯閤免疫缺陷綜閤徵,包括ATM、MRE11、NBS1、BLM、RNF168、DNMT3B、ZBTB24、PMS2、MCM4共9箇基因缺陷導緻的8種疾病,此類疾病都是常染色體隱性遺傳,且多數為單基因遺傳病,免疫缺陷程度不等.現主要綜述這些疾病的髮病機製、臨床錶現、免疫錶型及診斷現狀.
DNA수복결함시일류반전형특정적연합면역결함종합정,포괄ATM、MRE11、NBS1、BLM、RNF168、DNMT3B、ZBTB24、PMS2、MCM4공9개기인결함도치적8충질병,차류질병도시상염색체은성유전,차다수위단기인유전병,면역결함정도불등.현주요종술저사질병적발병궤제、림상표현、면역표형급진단현상.
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.
