Summary

Inborn errors of immunity (IEI) encompass a rapidly growing spectrum of genetic disorders affecting immune development and function and resulting in susceptibility to infection, immune dysregulation, autoimmunity and malignancy.

The therapeutic approach to IEI has evolved considerably over recent decades. The cornerstones of management include antimicrobial prophylaxis, immunoglobulin replacement, and treatment of immune dysregulation and lymphoproliferative complications. For patients with severe IEI, hematopoietic stem cell transplantation offers potentially curative therapy, with early transplantation associated with improved outcomes in appropriately selected patients. The therapeutic landscape is expanding through the development of gene therapy and an increasing number of disease-specific, targeted treatments directed at defined molecular and immunological pathways.

These advances are shifting the paradigm from predominantly supportive management toward increasingly definitive and precision-based therapies. As therapeutic opportunities continue to evolve, broadening awareness of these advances across medical disciplines will be critical to ensuring that patients with IEI can benefit from the full range of available therapies and achieve the best possible outcomes.