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Case Reports
. 2002 Jan;24(1):69-71.
doi: 10.1097/00043426-200201000-00018.

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

Christel Baguette  1 , Christiane Vermylen, Bénédicte Brichard, Jacques Louis, Karin Dahan, Marie Françoise Vincent, Guy Cornu
Affiliations
Case Reports

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

Christel Baguette et al. J Pediatr Hematol Oncol. 2002 Jan.

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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