Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency
C Baguette, C Vermylen, B Brichard… - Journal of pediatric …, 2002 - journals.lww.com
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.
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.