Purine nucleoside phosphorylase deficiency

Orpha code: 760OMIM code: 613179

Definition

A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

Disease data
Classification

Disease

Synonyms
PNP deficiency
Niedobór PNP
Niedobór PNPazy
PNPase deficiency
ORPHA code
760
OMIM code
613179
ICD10 code
D81.5
ICD11 code
4A01.1Y

No additional description.

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