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

Journal of Pediatric Hematology/oncology
Christel BaguetteGuy Cornu

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.

References

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Citations

Nov 1, 2011·Journal of Clinical Immunology·Soodabeh Fazeli DehkordyNima Rezaei
Sep 12, 2006·The Journal of Clinical Investigation·Ana Toro, Eyal Grunebaum
Jun 29, 2014·Journal of Inherited Metabolic Disease·Shanti BalasubramaniamJohn Christodoulou
Apr 24, 2012·Neurobiology of Disease·Alireza MansouriChaim M Roifman
Mar 24, 2010·Pediatric Clinics of North America·Paul SzabolcsPaul Veys
Jul 21, 2007·Journal of Child Neurology·Ferda OzkinayCihangir Ozkinay
Nov 11, 2019·Journal of Clinical Immunology·Yael Dinur SchejterIrina Zaidman

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