GTR Home > Conditions/Phenotypes > Purine-nucleoside phosphorylase deficiency


Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment (review by Aust et al., 1992). [from OMIM]

Available tests

22 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

  • Splenomegaly
  • Recurrent opportunistic infections
  • Markedly reduced T cell function
  • Recurrent viral infections
  • Intellectual disability
  • Abnormality of B cell physiology
  • Lymph node hypoplasia
  • Lymphopenia
  • Tremor
  • Failure to thrive
  • Recurrent bacterial infections
  • Recurrent urinary tract infections
  • Sinusitis
  • Otitis media
  • Behavioral abnormality
  • Ataxia
  • Muscular hypotonia
  • Spastic diplegia
  • Motor delay
  • Autoimmune hemolytic anemia
  • Autoimmune neutropenia
  • Autoimmune thrombocytopenia
  • Pneumonia
  • Tetraparesis
  • Lymphoma
  • Recurrent lower respiratory tract infections
  • Recurrent upper respiratory tract infections
  • Hypouricemia
  • Cerebral vasculitis
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