Immunological and Metabolic Reconstitution Following Successful Bone Marrow Transplantation from a HLA-Identical Sibling in an Infant with Adenosine Deaminase Deficeincy and Severe Combined Immunodeficiency: Partial Restoration of Purine Metabolism
Chen et al. have reported that bone marrow transplantation in a patient with adenosine deaminase (ADA) deficiency and severe combined immunodeficiency is followed by clearing of one abnormal metabolite, deoxy(d)ATP, from the patient’s own still ADA-deficient erythrocytes (1). This finding suggests that engraftment of donor lymphocytes into an ADA-deficient patient provided “enzyme replacement therapy”, and completely corrected the accumulation of adenine deoxyribonucleotides in one of nonlymphoid tissues.
KeywordsBone Marrow Transplantation Enzyme Replacement Therapy Adenosine Deaminase Severe Combine Immunodeficiency Purine Metabolism
Unable to display preview. Download preview PDF.
- 4.Hershfield, M.S., Fetter, J.E. Small, W.C., Bagnara, A.S., Williams, S.R., Ullman, B., Martin, Jr., D.W., Wasson D.B. and Carson, D.A. Effects of mutational loss of adenosine kinase and deoxycytidine kinase on deoxyATP accumulation and deoxyadenosine toxicity in cultured CEM Human T-lymphoblastoid cells. J. Biol. Chem. 257, 6380–6386 (1982)PubMedGoogle Scholar