Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling.
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.
Broome
C B
CB
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Graham
M L
ML
Saulsbury
F T
FT
Hershfield
M S
MS
Buckley
R H
RH
D016026:Bone Marrow Transplantation; D002648:Child; D005500:Follow-Up Studies; D006650:Histocompatibility Testing; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000209:etiology* / Q000628:therapy*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology; D013997:Time Factors; D014184:Transplantation, Homologous
D011683:Purine-Nucleoside Phosphorylase