DDR相关蛋白缺陷引起的原发性免疫缺陷表型研究进展

Progress in DDR Protein Defect-induced Primary Immunodeficiency Phenotypes

摘要: 在细胞内可变区基因（多样化基因）连接区基因片段重组（variable （diversity） joining recombination，V（D）J）与免疫球蛋白的类别转换重组（class switch recombination，CSR）过程中会产生程序性DNA双链断裂（DNA double strand break，DSB）.当检测到DSB发生时DNA损伤反应（DNA damage response，DDR）被启动.DDR缺陷的病人具有原发性免疫缺陷表型（primary immunodeficiency，PID）.总结了V（D）J重组与CSR产生DDR的分子机制，综述了V（D）J重组与CSR过程中DDR相关蛋白缺陷引起的原发性免疫缺陷表型.

Abstract: Programmed DNA double strand breaks(DSB) are generated during V(D)J recombination and class switch recombination(CSR) of immunoglobulin. DNA damage response (DDR) is initiated when DSB are detected. The patients with DDR defect present phenotype of primary immunodeficiency(PID). This article will mainly focus on phenotypes of PID due to impaired DDR, firstly summarizing the mechanism of V(D)J recombination and CSR-induced DDR, then reviewing the PID phenotypes induced by DDR protein defect in V(D)J recombination and CSR.