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Niznov syndrome
Nezelof’s syndrome is thymic alymphoplasia without parathyroid insufficiency. It is an autosomal recessive genetic disease. Some patients have purine nucleoside phosphorylase deficiency, which is an enzyme deficiency in the purine substitution pathway. It is a primary combined immunodeficiency disease.
  • Site of disease:

    Immune system whole body
  • Infectious :

    Not contagious
  • Frequent population:

    Infants and young children
  • Related symptoms:

    Candida infection Signs of sepsis Recurrent pneumonia Varicella-like rash
  • Concurrent disease:

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