731 Purine Nucleoside Phosphorylase (pnp) Deficiency with Cellular Immune Deficiency

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 4… CONTINUE READING