Abstract
Purine nucleoside phesphorylase (PNP) deficiency is characterized by severe combined immunodeficiency. Although cases of adenosine deaminase deficiency have been reported, this first case has been the only one ever reported in Japan. The patient was a 7-year-old girl who had developed recurrent respiratory infections since 3 years old and died from varicella infection. She had significantly low levels of serum uric acid and reduced T-lymphocytes function, which lead us to examine the PNP activity in erythrocytes. The activity was only 4.8% of the controls. In addition, PNP activity in the parents showed only about 50% of normal controls. The residual PNP in liver was immunologically cross reactive to the antibody which was determined by Ochtalony and Western blotting. The physico-chemical characteristics of PNP activities from the patient's liver showed no remarkable difference when compared to that of the controls except for the slightly different optimal pH. To determine the reason why the PNP activity in the patient was deficient, the molecular approach was necessary. For this purpose the m RNA was extracted from the patient's as well as control livers and Northern blotting method was used. The result showed that the patient had the same molecular RNA size and the intact volume of m RNA. These strongly suggests that the patient has point mutation in PNP-DNA.
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Sakiyama, T., Iwase, M., Horinouchi, K. et al. 132 CLINICO-BIOCHEMICAL AND MOLECULAR STUDIES OF PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY. Pediatr Res 24, 133 (1988). https://doi.org/10.1203/00006450-198807000-00156
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DOI: https://doi.org/10.1203/00006450-198807000-00156