Inborn errors of specific immunity: adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency

摘要: Many inborn errors of metabolism are known to occur in immune defence systems. Most these involve non-specific immunity, particularly the complement and neutrophil granulocyte Inborn specific immunity were not described until recently. In this discussion, we will review two most important diseases latter group, deficiency adenosine deaminase (ADA) purine nucleoside phosphorylase (PNP). Lack transcobalamine II, leading hypogammaglobulinaemia, may represent a third disorder group1 but consider entity here.