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High IL-18 (interferon-γ inducing factor) concentration in a purine nucleoside phosphorylase deficient patient


The plasma concentration of IL-18 (interferon-γ inducing factor) was severely increased in a 3 year old boy with purine nucleoside phosphorylase (PNP) deficiency. The presence and activity of IL-18 were confirmed by immunoblotting and bioassay, respectively. These results suggest that IL-18 may be abundantly produced and secreted into plasma by PNP deficient macrophages in PNP deficiency.

  • purine nucleoside phosphorylase deficiency
  • interferon-γ inducing factor
  • cytokines

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