Orthophosphate ribosyl transferase deficiency (medical condition)

A very rare genetic disease involving an enzyme (purine nucleoside phosphorylase - PNP) deficiency which causes a buildup of toxic metabolic products which in turn impairs the development of T-cells (part of the body's immune system). The condition is characterized primarily by frequent infections and various neurological symptoms. See also Purine nucleoside phosphorylase deficiency