在嘌呤的分解代谢中,腺苷酸脱氨基酶(ADA)或核甘磷酸化酶(NP)的遗传缺陷,可以引起致命的免疫缺陷病。E.Giblett 为了调查多形性信息酶,检查一名患严重混合免疫缺陷(SCID)儿童的红细胞时(这名儿童 T 和 B 细胞严重缺陷),意外地发现 ADA缺乏。其后,她又于一名患严重 T 细胞缺陷的儿童发现 NP 缺乏。这两例只是遗传学上决定的有已知生化基础的免疫缺陷。虽然ADA 和 NP 分布于所有的哺乳动物的组织 In purine catabolism, a genetic defect of adenine deaminase (ADA) or nuclear phosphorylase (NP) can cause fatal immunodeficiency disease. When E.Giblett examined a polymorphism message enzyme and examined a red cell in a child with severe mixed immunodeficiency (SCID), a severe defect in this child’s T and B cells, she was unexpectedly found to lack ADA. Later, she discovered a lack of NP in a child with severe T cell deficiency. These two cases are only genetically determined to have a known biochemical basis of immunodeficiency. Although ADA and NP are distributed in all mammalian tissues