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Purine nucleoside phosphorylase deficiency

rare

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

Identifiers
MONDO:0013171 OMIM:613179Orphanet:760
Causal genes
PNP
Part of
Inborn disorder of purine metabolism
Also known as
immunodeficiency due to purine nucleoside phosphorylase deficiency · PNP deficiency · PNPase deficiency · purine-nucleoside phosphorylase deficiency

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