1.
Chinese Journal of Applied Clinical Pediatrics
;
(24): 638-640, 2015.
Artículo
en Chino
| WPRIM
| ID: wpr-465130
RESUMEN
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.