Intravenous Deoxycytidine Therapy in a Patient with Adenosine Deaminase Deficiency

Abstract

Adenosine deaminase (ADA) deficiency usually results in severe combined immunodeficiency disease. Without therapy, these children usually die from overwhelming infections. The most successful therapy remains bone marrow transplantation from a histocompatible sibling donor. Efforts at a biochemical approach have focused on enzyme replacement using repeated transfusions from ADA-positive donors (Polmar et al., 1976). Unfortunately, only a relatively few patients with ADA deficiency have histocompatible siblings to provide a bone marrow transplant and less than 50% of patients with ADA deficiency show a significant response to red cell transfusions. In addition, there are significant risks of repeated red cell transfusions, including iron overload, transfusion reactions, and viral infections.