Purine nucleoside phosphorylase deficiency

Purine nucleoside phosphorylase deficiency is one of several disorders that damage the immune system and cause severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from foreign invaders such as bacteria, viruses, and fungi. Affected individuals are ...1

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Symptoms of Purine nucleoside phosphorylase deficiency

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of Purine nucleoside phosphorylase deficiency

Genetic Changes: Purine nucleoside phosphorylase deficiency is caused by mutations in the PNP gene. The PNP gene provides instructions for making an enzyme called purine nucleoside phosphorylase. This enzyme is found throughout the body but is most active in specialized ...2

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)3 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ purine-nucleoside-phosphorylase-deficiency
  2. ibid.
  3. ibid.

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