Limited effect of erythrocyte and plasma infusions in adenosine deaminase deficiency.
Limited effect of erythrocyte and plasma infusions in adenosine deaminase deficiency.
复制标题
红细胞和血浆输注对腺苷脱氨酶缺乏症的作用有限。
DOI：
10.1016/s0022-3476(78)80894-4
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发表时间：
1978
期刊：
影响因子：
--
通讯作者：
R. Goldblum
中科院分区：
文献类型：
--
作者：
F. Schmalstieg;G. C. Mills;J. Nelson;L. May;A. Goldman;R. Goldblum
一名 10 个月大的儿童患有腺苷脱氨酶严重缺乏和严重的联合免疫缺陷，接受了为期 17 个月的治疗，输注了含有正常量缺乏酶的红细胞和血浆。每次输血后，血浆腺苷、红细胞和淋巴细胞 ATP、尿腺嘌呤和尿脱氧腺苷短暂下降。在此期间，血液淋巴细胞绝对计数上升，并且观察到淋巴细胞对PHA-P的反应有限地增加。输血期间迟发性超敏反应皮肤测试仍呈阴性。血清免疫球蛋白发生定量升高，但没有引起特异性抗体形成。与之前通过红细胞和血浆输注成功治疗 ADA 缺乏症的报道相比，该患者对酶替代疗法的反应不佳。这种差异可能与我们的患者更严重的酶缺乏有关。
A 10-month-old child with a profound deficiency of adenosine deaminase and severe combined immunodeficiency was treated for a period of 17 months with red cell and plasma transfusions containing normal amounts of the deficient enzyme. Following each transfusion, the plasma adenosine, red cell and lymphocyte ATP, urinary adenine, and urinary deoxyadenosine decreased transiently. During this period, the absolute blood lymphocyte count rose and a limited increased in the response of the lymphocytes to PHA-P was observed. Delayed hypersensitivity skin tests remained negative during the transfusion periods. A quantitative elevation of serum immunoglobulins occurred, but specific antibody formation was not elicited. In contrast to a previous report of successful therapy of ADA deficiency with red cell and plasma infusions, this patient responded poorly to enzyme replacement therapy. The difference may be related to a more profound enzyme deficiency in our patient.