CD25 deficiency

CD25 deficiency is a rare immunodeficiency disorder characterized by recurrent infections, autoimmunity, and lymphoproliferation. It is caused by mutations in the IL2RA gene, which encodes the alpha chain of the interleukin-2 receptor (CD25).

Clinical Features

Patients with CD25 deficiency typically present in infancy or early childhood with recurrent bacterial, viral, and fungal infections. These can include pneumonia, sepsis, meningitis, and skin infections. In addition, patients often develop autoimmune disorders such as hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia. Lymphoproliferation, manifesting as lymphadenopathy and/or hepatosplenomegaly, is also common.

Diagnosis

The diagnosis of CD25 deficiency is based on clinical features and confirmed by genetic testing showing a mutation in the IL2RA gene. Laboratory findings typically include low or absent CD25 expression on T cells, impaired T cell proliferation in response to interleukin-2, and variable abnormalities in immunoglobulin levels.

Treatment

Treatment of CD25 deficiency is primarily supportive and includes management of infections with antibiotics, antivirals, and antifungals, as well as treatment of autoimmune disorders with immunosuppressive therapy. In severe cases, hematopoietic stem cell transplantation may be considered.

Prognosis

The prognosis of CD25 deficiency is variable and depends on the severity of the disease and the response to treatment. Some patients have a relatively mild course with few complications, while others have severe disease with frequent infections and autoimmune disorders.

See Also

• Primary immunodeficiency
• Interleukin-2
• Autoimmune diseases
• Lymphoproliferative disorders

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