Intravenous Deoxycytidine Therapy in a Patient with Adenosine Deaminase Deficiency
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.
KeywordsAdenosine Deaminase Deoxycytidine Deaminase Severe Combine Immunodeficiency Disease Adenosine Deaminase Activity Ribonucleotide Reductase Inhibition
Unable to display preview. Download preview PDF.
- Cohen, A., Hirschhorn, R., Horowitz, S., Rubinstein, A., Polmar, S., Hong, R., and Martin, Jr., D., 1978, Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency, Proc. Natl. Acad. Sci. USA, 75: 472.Google Scholar
- Cowan, M., Fujiwara, P. and Ammann, A., 1980, Cellular immune defect in selective IgA deficiency using a microculture method for PHA stimulation and limiting dilution, Clin. Immunol. & Immunopath., 17: 595.Google Scholar
- Cowan, M., Fraga, M., Andrew, J., Lameris-Martin, N., and Ammann, A., 1982, Purine salvage pathway enzyme activities in human T, B and null lymphocyte populations, Cell. Immunol., 67: 121.Google Scholar
- Polmar, S.H., Stern, R.C., Schwartz, A.L., Wetzler, E.M., Chase, P.A. and Hirschhorn, R., 1976, Enzyme resplacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency, N. Engl. J. Med., 295: 1337.Google Scholar
- Reem, G.H., Borkowsky, W., and Hirschhorn, R., 1979, Purine and phosphoribosylpyrophosphate metabolism of lymphocytes and erythrocytes of an adenosine deaminse deficient immunocompetent child, Pediatr. Res., 13: 649.Google Scholar