Purine Nucleoside Phosphorylase Deficiency Associated With Cellular Immunodeficiency - Follow Up During Treatment

This 10-year-old boy with unremarkable medical history developed aplastic anemia of unknown etiology in December, 1974. He received a bone marrow infusion from his sister whose leukocytes were HLA-identical and nonreactive in MLC. The transplantation was carried on without major complications and the patient spent normal life during the first year although he presented with mild akin lesiona compatible with GVHR. During the second year after the graft the patient gradually over a period of about 4 months developed a severe, progressive scleroderma-like skin and joint involvement with markedly limited range of motion. His hemoglobin, blood cells counts, exclusive work-up of blood and urine and serum imnunology showet values within the normal range, except the serum concentration, of IgG gradually rose up to 3.6 g%. In accordance of the clinical picture the skin histology waa typical for the scleroderma. The patient was treated with i.v. methotrexate (12mg/m2) once and subsequently twice a week. During the follow-up period of about 10 months the severe skin lesions have gradually subsided, first in the area of face and shoulders and then in that of arms and upper trunk and the skin biopsy from the healed area showed normal histology. At present the patient is left with flexion contractions and slowly recovering skin lesions in the lower extremities. The history of our patient indicates the possibility of unpredictable long-term consequences after initially succesful bone marrow grafting.