Purine nucleoside phosphorylase deficiency.

  title={Purine nucleoside phosphorylase deficiency.},
  author={M. Louise Markert},
  journal={Immunodeficiency reviews},
  volume={3 1},
Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disease accounting for approximately 4% of patients with severe combined immunodeficiency. Thirty-three patients have been reported. PNP-deficient patients suffer from recurrent infections, usually beginning in the first year of life. Two thirds of patients have evidence of neurologic disorders. Findings range from spasticity to developmental delay, to mental retardation. One third of patients develop autoimmune disease. The… CONTINUE READING