LATE DIAGNOSIS AND CORRECTION OF PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY WITH ALLOGENEIC BONE-MARROW TRANSPLANTATION

A 5-year-old boy with spastic quadriplegia, T cell immunodeficiency, h ypouricemia and immune cytopenias from age 8 months, was found to have purine nucleoside phosphorylase (PNP) deficiency, and developed chron ic 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/m(2)) and anti-thymo cyte globulin (36 mg/kg). T lymphocyte numbers, PNP activity and uric acid levels rapidly improved and he remains well 12 months after trans plant.