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Purine nucleoside phosphorylase deficiency

Disease definition

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.

ORPHA:760

  • Synonym(s):
    • PNP deficiency
    • PNPase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: D81.5
  • OMIM: 613179
  • UMLS: C0268125
  • MeSH: -
  • GARD: 4606
  • MedDRA: -

Additional information

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