Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.

Baguette, Christel;Vermylen, Christiane;Brichard, Bénédicte;Louis, Jacques;Cornu, Guy;et.al.
(2002) Journal of Pediatric Hematology / Oncology — Vol. 24, n° 1, p. 69-71 (2002)

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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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Baguette, C., Vermylen, C., Brichard, B., Louis, J., Dahan, K., Vincent, M.-F., & Cornu, G. (2002). Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency. Journal of Pediatric Hematology / Oncology, 24(1), 69-71. https://doi.org/10.1097/00043426-200201000-00018 (Original work published 2002)