Stoop J W, Zegers B J, Hendrickx G F, van Heukelom L H, Staal G E, de Bree P K, Wadman S K, Ballieux R E
N Engl J Med. 1977 Mar 24;296(12):651-5. doi: 10.1056/NEJM197703242961203.
We studied a 15-month-old girl who had normal T-cell and B-cell immunity at birth, after which a gradual decrease in T-cell immunity developed. This selective cellular immunodeficiency was inherited as an autosomal recessive trait: two older sisters had the same immunodeficiency. Adenosine deaminase activity was present in erythrocytes and lymphocytes of the patient, parents and a healthy brother. Purine nucleoside phosphorylase activity was not found in the patient's erythrocytes and lymphocytes (the parents and brother had intermediate values, indicating that the enzyme deficiency too was inherited as an autosomal recessive trait). Analysis of serum and urine from the patient and of serum from her two deceased sisters showed high levels of inosine and guanosine in addition to hypouricemia and hypouricosuria. The bone marrow was megaloblastic, and the blood hypochromic microcytic. The patient had spastic tetraparesis. Intoxication of the T lymphocytes after birth by metabolic products may explain the progressive cellular immunodeficiency.
我们研究了一名15个月大的女孩，她出生时T细胞和B细胞免疫功能正常，此后T细胞免疫功能逐渐下降。这种选择性细胞免疫缺陷以常染色体隐性性状遗传：两个姐姐有相同的免疫缺陷。患者、父母和一个健康兄弟的红细胞和淋巴细胞中存在腺苷脱氨酶活性。在患者的红细胞和淋巴细胞中未发现嘌呤核苷磷酸化酶活性（父母和兄弟的值处于中间水平，表明酶缺乏也是以常染色体隐性性状遗传）。对患者的血清和尿液以及她两个已故姐姐的血清分析显示，除了低尿酸血症和低尿酸尿症外，肌苷和鸟苷水平也很高。骨髓呈巨幼细胞性，血液呈低色素小细胞性。患者有痉挛性四肢轻瘫。出生后T淋巴细胞被代谢产物中毒可能解释了进行性细胞免疫缺陷。
