Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency.
Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency.
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腺苷脱氨酶缺乏症和严重联合免疫缺陷的酶替代疗法。
DOI：
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发表时间：
1976
影响因子：
158.5
通讯作者：
R. Hirschhorn
中科院分区：
文献类型：
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作者：
S. Polmar;R. Stern;A. Schwartz;E. Wetzler;P. Chase;R. Hirschhorn
为了评估其作为替代疗法的作用，将冷冻辐照红细胞给予一名患有腺苷脱氨酶缺乏症并伴有严重联合免疫缺陷病的儿童。体外淋巴细胞对有丝分裂原和同种异体细胞的反应得到恢复。随后，出现“胸腺阴影”，并显示免疫球蛋白合成。冷冻辐照血浆，单独对淋巴细胞数量或反应没有影响，当与冷冻辐照红细胞一起给药时，促进淋巴细胞增多。患者每隔4周接受一次有或无辐照血浆的输血，并在17个月内保持无感染。患者的淋巴细胞三磷酸腺苷水平在治疗前升高，治疗持续降低，但不改变淋巴细胞腺苷脱氨酶活性。酶替代疗法可能提供一种方法来治疗与严重联合免疫缺陷病相关的腺苷脱氨酶缺乏症患者，这些患者没有组织相容性骨髓供体。
To evaluate their role as a form of replacement therapy, frozen irradiated red blood cells were administered to a child with adenosine deaminase deficiency associated with severe combined immunodeficiency disease. In vitro lymphocyte responses to mitogens and allogeneic cells were restored. Subsequently, a "thymus shadow" appeared, and immunoglobulin synthesis was demonstrated. Frozen irradiated plasma, which alone had no effect on lymphocytes numbers or responses, promoted lymphocytosis when given with frozen irradiated red blood cells. The patient received the transfusions with or without irradiated plasma at four-week intervals and remained free of infection for 17 months. The patient's lymphocyte adenosine triphosphate levels were elevated before therapy, which consistently reduced them without altering the lymphocyte adenosine deaminase activity. Enzyme replacement therapy may provide a way to treat patients with adenosine deaminase deficiency associated with severe combined immunodeficiency disease who do not have histocompatible bone-marrow donors.