Clinico-Biochemical and Molecular Studies of Purine Nucleoside Phosphorylase Deficiency
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Primary immunodeficiency states due to congenital and/or heritable enzyme defects were first recognized in a report of two patients wtih severe combined immunodeficiency disease and virtually complete absence of erythro-cyte adenosine deaminase (ADA), and secondly in a report of a girl with purine nucleoside phosphorylase (PNP) deficiency, accompanied with a defect in cellular immunity but with apparently normal humoral immunity, by Giblett and her collaborators 1, 2. Both ADA and PNP deficiency manifest recurrent and persistent infections, usually fatal without treatment, however the prevalence of PNP deficiency is less than that of ADA. Although several cases of ADA deficiency have been reported in Japan, this seems to be the only PNP deficiency case ever reported here.
KeywordsSerum Uric Acid Adenosine Deaminase Severe Combine Immunodeficiency Purine Nucleoside Phosphorylase Severe Combine Immunodeficiency Disease
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