Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling.
case_report · Level V
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Abstract
Deficiency of the purine salvage pathway enzyme purine nucleoside phosphorylase causes a combined immunodeficiency and neurologic abnormalities and is usually fatal in childhood. We report the first successful transplantation of bone marrow from a sibling with identical class II human leukocyte antigens in this condition, demonstrating correction of both lymphocyte metabolic and functional abnormalities.
Medical subject headings
- Bone Marrow Transplantation
- Immunologic Deficiency Syndromes
- Purine-Nucleoside Phosphorylase