Purine nucleoside phosphorylase deficiency
Engelsk navn: Purine nucleoside phosphorylase deficiency
Engelske synonym: PNP deficiency,PNPase deficiency
Definisjon
A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
Fra Orphanet
ORPHA: 760
Klassifiseringsnivå: Disorder
ICD-10: D81.5
Mer informasjon
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