Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling

C B Broome; M L Graham; F T Saulsbury; M S Hershfield; R H Buckley

doi:10.1016/s0022-3476(96)70285-8

Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling

J Pediatr. 1996 Mar;128(3):373-6. doi: 10.1016/s0022-3476(96)70285-8.

Authors

C B Broome¹, M L Graham, F T Saulsbury, M S Hershfield, R H Buckley

Affiliation

¹ Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

PMID: 8774508
DOI: 10.1016/s0022-3476(96)70285-8

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.

Publication types

Case Reports

MeSH terms

Bone Marrow Transplantation*
Child
Follow-Up Studies
Histocompatibility Testing
Humans
Immunologic Deficiency Syndromes / etiology*
Immunologic Deficiency Syndromes / therapy*
Purine-Nucleoside Phosphorylase / deficiency*
Purine-Pyrimidine Metabolism, Inborn Errors / complications
Purine-Pyrimidine Metabolism, Inborn Errors / enzymology
Time Factors
Transplantation, Homologous

Substances

Purine-Nucleoside Phosphorylase