Evolution of Inborn Errors of Immunity in China: Discoveries and Treatment Paradigms

Inborn errors of immunity (IEI) are monogenic disorders of the immune system that lead to immunodeficiency, autoimmunity, autoinflammation, allergy, and/or cancer. This review provides a comparative review of the epidemiology, clinical manifestations, and management of IEI in China. While individual forms of IEI are generally rare disorders globally, collectively they represent a significant disease burden. China has recently made great strides in the diagnosis and treatment of IEIs with the increasing utility of next-generation sequencing and the availability of hematopoietic stem cell transplantation. Challenges remain in the establishment of national registry databases comparable to the European Society for Immunodeficiencies and The United States Immunodeficiency Network. Also, the absence of a national newborn screening program for severe combined immunodeficiency poses risks regarding live attenuated vaccination in undiagnosed infants. Current access to treatment including subcutaneous immunoglobulin, targeted molecular therapies, and commercialized gene therapy remains limited in China. Nevertheless, the therapeutic landscape is rapidly evolving, marked by an increasing clinical application of precision molecular-targeted treatments and the emergence of AI-empowered gene editing therapies. Ultimately, advancing the field of IEI necessitates global collaboration, integrating the complementary strengths of both regions to establish scientific breakthroughs and clinical innovation.