title: Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation.
abstract: A 5-year-old boy with spastic quadriplegia, T cell immunodeficiency, hypouricemia and immune cytopenias from age 8 months, was found to have purine nucleoside phosphorylase (PNP) deficiency, and developed chronic lung disease. Successful matched sibling BMT for PNP deficiency has not previously been reported. BMT using marrow from an HLA-identical sibling donor was performed after conditioning with busulfan (16 mg/kg), cyclophosphamide (200 mg/kg), melphalan (90 mg/m2) and anti-thymocyte globulin (36 mg/kg). T lymphocyte numbers, PNP activity and uric acid levels rapidly improved and he remains well 12 months after transplant.
authors.affiliation: Department of Immunology, Prince of Wales Children's Hospital and School of Paediatrics, Sydney, Australia.
authors.forename: P A
authors.initials: PA
authors.lastname: Carpenter
authors.forename: J B
authors.initials: JB
authors.lastname: Ziegler
authors.forename: M R
authors.initials: MR
authors.lastname: Vowels
mesh_terms: D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D003520:Cyclophosphamide / Q000627:therapeutic use; D006086:Graft vs Host Disease / Q000209:etiology; D006801:Humans; D008297:Male; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D014184:Transplantation, Homologous
chemical_list: D003520:Cyclophosphamide; D011683:Purine-Nucleoside Phosphorylase