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


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Broome, CB; Graham, ML; Saulsbury, FT; Hershfield, MS; Buckley, RH

Published Date

  • March 1996

Published In

Volume / Issue

  • 128 / 3

Start / End Page

  • 373 - 376

PubMed ID

  • 8774508

Pubmed Central ID

  • 8774508

International Standard Serial Number (ISSN)

  • 0022-3476

Digital Object Identifier (DOI)

  • 10.1016/s0022-3476(96)70285-8


  • eng

Conference Location

  • United States