Pediatric purine nucleotide phosphorylase deficiency

Purine nucleoside phosphorylase (PNP) deficiency is mainly manifested as a deficiency of T cell immune function and B cells may be normal. The disease was first reported in 1975 as an autosomal recessive disease.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.