Gene therapy for primary immunodeficiency disease

AN Yun-fei; ZHAO Xiao-dong

doi:10.19538/j.ek2017070608

Abstract：Primary immunodeficiency diseases are inherent disorders in which part of the immune system is missing or does not function normally.The incidence rate of PID is about 1/5000,and there are at least 200 000 survivors in China.The hematopoietic stem cell transplantation results in the recovery of the majority of the current lethal PID patients,but the majority of the children are unable to receive treatment because of lacking HLAmatched donor,high cost and varying degrees of immune rejection.Gene therapy refers to the repair of autologous hematopoietic stem cell mutations in patients to reconstruct the immune system.PID has always been the preferred disease for gene therapy,gene therapy is also the most promising PID cure strategy.Gene therapy has been succeeded in many kinds of the PID disease,and some PID centers in China have also started preclinical study.In addition,TALEN,ZFN,CRISPR-Cas9 technology,as the in-situ gene editing technology,have been studied deeply,so defective gene repair in situ is possible,and the problem of precise regulation of gene expression and maintaining genome integrity can be solved.All in all,gene therapy will benefit the PID children and families in the near future.