Purine nucleoside phosphorylase deficiency: 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. More detailed information about the symptoms, causes, and treatments of Purine nucleoside phosphorylase deficiency is available below.
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Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Purine nucleoside phosphorylase deficiency as a "rare disease".
Source - Orphanet
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