Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency.
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.
Baguette
Christel
C
Department of Pediatric Hematology and Oncology, Cliniques Universitaires St. Luc, Brussels, Belgium.
Vermylen
Christiane
C
Brichard
Bénédicte
B
Louis
Jacques
J
Dahan
Karin
K
Vincent
Marie Françoise
MF
Cornu
Guy
G
D017398:Alternative Splicing; D019943:Amino Acid Substitution; D016026:Bone Marrow Transplantation; D002869:Chromosome Aberrations; D002658:Developmental Disabilities / Q000235:genetics / Q000276:immunology / Q000503:physiopathology*; D018450:Disease Progression; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D008213:Lymphocyte Activation; D018655:Lymphocyte Count; D020125:Mutation, Missense; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics / Q000276:immunology / Q000628:therapy*; D017384:Sequence Deletion; D013997:Time Factors; D016896:Treatment Outcome; D014527:Uric Acid / Q000097:blood
D014527:Uric Acid; D011683:Purine-Nucleoside Phosphorylase