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.
