Uberti J, Peterson W D, Lightbody J J, Johnson R M
J Immunol. 1983 Jun;130(6):2866-70.
Two lymphoblast lines from a patient with partial adenosine deaminase deficiency have been obtained. The patient has a T cell deficiency, with normal B cell function, and has been successfully treated by multiple partial exchange transfusions with normal erythrocytes. The patient's lymphocytes have about 8% of normal adenosine deaminase activity. The derived lymphoblast line that initially had low adenosine deaminase activity has undergone spontaneous reversion to normal enzyme activity. The HL-A types remain the same as the patient's. Both cell lines have the same HL-A types, and eight isoenzymes are identical. In addition, the isoenzymes of a fibroblast line derived earlier, GM-2445, are identical with those in our lymphoblast lines. The following characteristics of the enzyme in the cell lines are normal: Km, Vmax, inhibitor sensitivity, heat sensitivity, and m.w. This suggests, but does not prove, that the low adenosine deaminase activity in this patient is caused by underproduction of a normal enzyme, and the observed reversion to normal activity in one line is a correction of this regulation defect.
已从一名部分腺苷脱氨酶缺乏症患者身上获得了两条淋巴母细胞系。该患者存在T细胞缺陷，B细胞功能正常，已通过多次用正常红细胞进行部分换血成功治疗。患者的淋巴细胞具有约8%的正常腺苷脱氨酶活性。最初腺苷脱氨酶活性较低的衍生淋巴母细胞系已自发恢复为正常酶活性。HL - A类型与患者相同。两条细胞系具有相同的HL - A类型，并且八种同工酶是相同的。此外，早期衍生的成纤维细胞系GM - 2445的同工酶与我们的淋巴母细胞系中的同工酶相同。细胞系中该酶的以下特性是正常的：米氏常数（Km）、最大反应速度（Vmax）、抑制剂敏感性、热敏感性和分子量（m.w.）。这表明，但未证明，该患者腺苷脱氨酶活性低是由正常酶产生不足引起的，并且在一个细胞系中观察到的恢复到正常活性是这种调节缺陷的纠正。
