原发性免疫缺陷病治疗全面进入精准时代

The treatment of primary immunodeficiency disease has entered an era of precision

摘要:

原发性免疫缺陷病（primary immunodeficiency disease，PID）是一类严重影响儿童生命与健康，造成家庭及社会负担的遗传病。既往主要治疗策略是替代治疗或造血干细胞移植重建免疫。近年来随着分子生物学的发展，诸多PID的发病机制得以明确，在此基础上靶向特异免疫受损点的精准治疗逐渐在临床开展。在PID的精准治疗方面，从传统的丙种球蛋白、酶替代治疗到基于信号通路的小分子抑制剂或生物大分子阻断，从造血干细胞移植根治到基因治疗和基因编辑，该领域的发展日新月异，已成为精准医学的典范，正为精准医学带来突破性进展。

Abstract:

Primary immunodeficiency disease (PID) is a group of inherited disorders that seriously affects children’s life and health, and causes a burden of families and the whole society. The main treatment strategy for PID in the past was replacement therapy or immune reconstruction by hematopoietic stem cell transplantation. In recent years, with the development of molecular biology, the pathogenesis of many cases of PID has been clarified. On this basis, precise and targeted therapy for defected molecules has been gradually carried out in clinical practice. The precise treatment of PID begins with the immunoglobulin G and enzyme replacement, and has been improved with the targeted small molecule inhibitors or biological macromolecules based on signal pathways. From the hematopoietic stem cell transplantation to gene therapy or gene editing in terms of cure strategy, this treatment strategy has been changing a lot, which indicates that PID as a typical indication, is bringing breakthroughs in precision medicine.