Abstract
Inherited deficiencies in purine metabolism can be associated with immunologic abnormalities. We report the 5th family deficient in PNP and cellular immunity. The proband, a 5-yr-old, had .08% of normal erythrocyte PNP. He presented at 3½-yrs with a history of mild increase in frequency of infections. He had a severe autoimmune hemolytic anemia and at 4½-yrs developed severe ataxia and tremor. He was lymphopenic (<300/mm3) had an absolute decrease in T- and B-lymphocytes and was unresponsive to phytohemagglutinin in vitro. Response to allogeneic cells was normal. IgG and IgM were increased and a monoclonal gammopathy (IgG4λ) was present. Other antibody functions were intact (non-reactive Schick test, normal isoagglutinins, and development of influenza antibodies after infection). Erythrocyte adenosine deaminase was normal. Serum uric acid was 1.9 mg/dl and plasma and urine inosine were increased (38 μM, 13.3 mmole/gm creatinine). Urine guanosine was also increased (4.15 mmole/gm creatinine). This patient confirms the role of purine catabolism in T-lymphocyte function. Also, the unusual neurological findings, monoclonal gammopathy and hemolytic anemia suggest that clinical manifestations of PNP deficiency may be more heterogenous than previously appreciated.
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Rich, K., Arnold, W., Fox, I. et al. 731 PURINE NUCLEOSIDE PHOSPHORYLASE (PNP) DEFICIENCY WITH CELLULAR IMMUNE DEFICIENCY. Pediatr Res 12 (Suppl 4), 485 (1978). https://doi.org/10.1203/00006450-197804001-00736
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DOI: https://doi.org/10.1203/00006450-197804001-00736