| Popis: |
Purine nucleoside Phosphorylase (PNP) catalyses the degradation of purine nucleosides and deoxynucleosides to the corresponding bases hypoxanthine and guanine. PNP deficiency is one of the rarest inherited purine disorders. Approximately 40 patients have been reported, 60% of whom have had neurological disorders, with developmental delay evident from birth and generally preceding the onset of immunodeficiency (reviewed in 1). There is a history of recurrent infection dating from infancy, with severe T cell dysfunction. B cell function may be normal initially, but declines with time. Most have died. |
