purine nucleoside phosphorylase deficiency (Q3043155)

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A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has material basis in mutation in the PNP gene and characterized mainly by decreased T-cell function.
  • PNP deficiency
  • Purine-Nucleoside Phosphorylase deficiency
  • deficiency of inosine phosphorylase
  • Purine nucleoside phosphorylase deficiency
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English
purine nucleoside phosphorylase deficiency
A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has material basis in mutation in the PNP gene and characterized mainly by decreased T-cell function.
  • PNP deficiency
  • Purine-Nucleoside Phosphorylase deficiency
  • deficiency of inosine phosphorylase
  • Purine nucleoside phosphorylase deficiency

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