As a group of monogenic inherited disorders of immune function，primary immunodeficiency diseases usually have specific pathogenesis and unique therapeutic targets. In the past ten years，in the newly discovered PIDs，a considerable part of the gain of function mutations（GOF），often manifested as autoimmune and inflammation. Small molecule inhibitors or biological macromolecules in the activated phosphoinositide 3-kinase syndrome（APDS），LPS-responsive and beige-like anchor protein deficiency（LRBA），Cytotoxic lymphocyte antigen 4 haploinsufficiency and STAT1 GOF mutation have achieved outstanding curative effect. The above treatment strategy based on the precise target indicates that PID as a typical indication, will likely bring a breakthrough in the next few years in precision medicine.
