CD70 deficiency
Related gene: CD70
Inheritance pattern: Autosomal recessive
CD70 deficiency is a rare form of combined immunodeficiency with hypogammaglobulinemia and low CD8+ T cells. Individuals are particularly susceptible to chronic Epstein-Barr virus (EBV) and at high risk of EBV-associated lymphoma. Severe varicella (chickenpox) infections have also been described. Ig replacement therapy and prophylactic antibiotics are recommended in this disorder, and hematopoietic stem cell transplantation (HSCT) should also be strongly considered given the high risk of malignancies.
