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

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

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 anti...

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Veröffentlicht in:The Journal of pediatrics 1996-03, Vol.128 (3), p.373-376
Hauptverfasser: Broome, Charlene B., Graham, Michael L., Saulsbury, Frank T., Hershfield, Michael S., Buckley, Rebecca H.
Format: Artikel
Sprache:eng
Schlagworte:
Biological and medical sciences
Bone Marrow Transplantation
Child
Follow-Up Studies
Histocompatibility Testing
Humans
Immunodeficiencies
Immunodeficiencies. Immunoglobulinopathies
Immunologic Deficiency Syndromes - etiology
Immunologic Deficiency Syndromes - therapy
Immunopathology
Medical sciences
Purine-Nucleoside Phosphorylase - deficiency
Purine-Pyrimidine Metabolism, Inborn Errors - complications
Purine-Pyrimidine Metabolism, Inborn Errors - enzymology
Time Factors
Transplantation, Homologous
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Zusammenfassung: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. (J P EDIATR 1996;128:373-6)
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(96)70285-8