Immunodeficiency due to CD25 deficiency

Immunodeficiency due to CD25 deficiency, also known as interleukin-2 receptor alpha chain (IL2RA) deficiency or IMD41, is an extremely rare primary immunodeficiency disorder caused by mutations in the IL2RA gene (also known as CD25), located on chromosome 10p15.1. CD25 is the alpha subunit of the interleukin-2 receptor, which plays a critical role in immune regulation, particularly in the development and function of regulatory T cells (Tregs). Without functional CD25, the immune system is unable to properly regulate itself, leading to both immunodeficiency and autoimmunity. The disease typically presents in infancy or early childhood with recurrent and severe infections, particularly viral infections such as cytomegalovirus (CMV), as well as bacterial and fungal infections. A hallmark feature of this condition is the combination of immunodeficiency with prominent autoimmune manifestations, including autoimmune enteropathy (causing chronic diarrhea and failure to thrive), autoimmune hemolytic anemia, eczema-like skin disease, and lymphadenopathy. Hepatosplenomegaly and lymphocytic infiltration of various organs may also occur. The condition reflects a failure of immune tolerance due to defective Treg cell function. Treatment is primarily supportive and includes management of infections with antimicrobial agents, immunosuppressive therapy for autoimmune complications, and immunoglobulin replacement therapy. Hematopoietic stem cell transplantation (HSCT) has been considered as a potentially curative treatment option in severe cases. Given the rarity of this condition, management is highly individualized and typically coordinated through specialized immunology centers.

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