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  • Title: Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.
    Author: Baguette C, Vermylen C, Brichard B, Louis J, Dahan K, Vincent MF, Cornu G.
    Journal: J Pediatr Hematol Oncol; 2002 Jan; 24(1):69-71. PubMed ID: 11902746.
    Abstract:
    A 10-month-old girl with a history of recurrent candidiasis, developmental delay, and a fulminant varicella infection is described. The diagnosis of purine nucleoside phosphorylase (PNP) deficiency was suggested by a reduced level of serum uric acid and confirmed by measurement of PNP activity. A human leukocyte antigen-matched bone marrow transplantation resulted in immune reconstitution, but poor neurodevelopmental progression.
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