Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation

Bone Marrow Transplant. 1996 Jan;17(1):121-4.


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.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Transplantation*
  • Child, Preschool
  • Cyclophosphamide / therapeutic use
  • Graft vs Host Disease / etiology
  • Humans
  • Male
  • Purine-Nucleoside Phosphorylase / deficiency*
  • Transplantation, Homologous


  • Cyclophosphamide
  • Purine-Nucleoside Phosphorylase