title: Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling.
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.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: C B
authors.initials: CB
authors.lastname: Broome
authors.forename: M L
authors.initials: ML
authors.lastname: Graham
authors.forename: F T
authors.initials: FT
authors.lastname: Saulsbury
authors.forename: M S
authors.initials: MS
authors.lastname: Hershfield
authors.forename: R H
authors.initials: RH
authors.lastname: Buckley
mesh_terms: 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
chemical_list: D011683:Purine-Nucleoside Phosphorylase