DNA repair defects in primary immunodeficiency diseases
10.3760/cma.j.issn.2095-428X.2015.08.021
- VernacularTitle:DNA修复缺陷导致的原发性免疫缺陷病
- Author:
Xuan ZHANG
;
Yunfei AN
;
Xiaodong ZHAO
- Publication Type:Journal Article
- Keywords:
DNA repair defect;
Combined immunodeficiencies;
Gene mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2015;30(8):638-640
- CountryChina
- Language:Chinese
-
Abstract:
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.
