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

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

C B Broome  1 , M L Graham, F T Saulsbury, M S Hershfield, R H Buckley
Affiliations
Case Reports

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

C B Broome et al. J Pediatr. 1996 Mar.

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.

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