Inborn Errors of Immunity: New Insights

Abstract

This paper presents a comprehensive and updated overview of inborn errors of immunity (IEIs), focusing on the optimal treatment strategies. IEIs or primary immunodeficiencies (PIDs) are a heterogeneous group of approximately 500 disorders, classified into ten categories according to the affected component of the immune system. The clinical presentation varies, based on the type of the disorder and the patient’s age. Early diagnosis is essential to prevent recurrent severe infections and potential organ damage. Treatment strategies, including hematopoietic stem cell transplantation, enzyme replacement therapy, thymus transplantation, or gene therapy, primarily focus to restore immune function. Emerging therapeutic approaches aiming to modify the immune response comprise small molecule inhibitors, biological therapies, and adoptive transfer of virus-specific T-cells. Given the complexity and diversity of PIDs, as well as evolving novel therapies, continuous education of the physicians on timely diagnosis and effective intervention, significantly improves patients’ management and outcomes.

Conclusion. Early diagnosis and individualized treatment plans are crucial for effectively managing IEIs. As treatment options evolve, ongoing education and the integration of new approaches are key to improving patient outcomes and quality of life.