CORRECTION OF PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY BY TRANSPLANTATION OF ALLOGENEIC BONE-MARROW FROM A SIBLING

Authors
BROOME CB GRAHAM ML SAULSBURY FT HERSHFIELD MS BUCKLEY RH
Citation
Cb. Broome et al., CORRECTION OF PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY BY TRANSPLANTATION OF ALLOGENEIC BONE-MARROW FROM A SIBLING, The Journal of pediatrics, 128(3), 1996, pp. 373-376
Citations number
15
Categorie Soggetti
Pediatrics
Journal title
The Journal of pediatrics → ACNP
ISSN journal
00223476
Volume
128
Issue
3
Year of publication
1996
Pages
373 - 376
Database
ISI
SICI code
0022-3476(1996)128:3<373:COPNPB>2.0.ZU;2-Q
Abstract
Deficiency of the purine salvage pathway enzyme purine nucleoside phos phorylase causes a combined immunodeficiency and neurologic abnormalit ies 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 o f both lymphocyte metabolic and functional abnormalities.