Overview of Possible Relation of Defects in Purine Metabolism to Immune Deficiency a
Overview of Possible Relation of Defects in Purine Metabolism to Immune Deficiency a
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嘌呤代谢缺陷与免疫缺陷可能存在的关系概述
DOI：
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发表时间：
1985
影响因子：
5.2
通讯作者：
J. Seegmiller
中科院分区：
文献类型：
--
作者：
J. Seegmiller
对医生在行医过程中遇到的自然突变的深入研究，对本世纪基础生物学和医学的发展做出了重大贡献。因此，1908年，英国医生阿奇博尔德·加罗德（Archibald Garrod）通过对尿醛酸尿症患者的详细研究，推导出了基因-酶关系，“这比微生物学家更详细地发展这一概念整整早了30年”，而他关于这种疾病的假设的有效性则比实际的酶测量结果早了整整50年。我们对免疫系统各个组成部分的理解的发展，在相当大的程度上，也是由于遗传性免疫缺陷病患者在抗生素可用后的生存，以及这些自然突变作为解剖探针来解开免疫反应的复杂相互关系。过去30年来人类遗传学的突飞猛进一再表明，一旦我们确定了异常基因产物，我们就可以对基于遗传的临床疾病所提供的生物过程进行非凡的洞察。这种认识将那些完全超出我们理解或治疗能力的奇怪的甚至悲惨的临床问题转化为迷人的“自然实验”，通过适当的研究，这些实验能够揭示异常基因产物引起临床表现和疾病的合理顺序。在获得这种理解的过程中，我们往往可以在我们对重要的潜在生物过程的理解中获得真正显着的扩展，这些生物过程使我们能够在某些情况下通过合理干预导致疾病病理学的事件序列来设计新的治疗和预防模式。
The intensive study of natural mutations encountered by physicians during their practice of medicine has contributed substantially to the development of the basic biological and medical sciences in this current century. Thus, the gene-enzyme relationship was deduced in 1908 by the British physician, Archibald Garrod, from detailed studies of patients with alcaptonuria,’ a full 30 years before the more detailed development of this concept by microbiologists’ and a full 50 years before the validity of his hypothesis of this disease was verified by actual enzyme measurements.’ Development of our understanding of the various components of the immune system has likewise resulted, to a considerable extent, from survival of patients with hereditary immunodeficiency diseases after antibiotics became available and use of these natural mutations as a dissecting probe for unraveling the complex interrelations of the immune response. The surge of progress in human genetics of the past three decades has repeatedly shown the remarkable insight into biological processes that can be provided by a genetically based clinical disorder, once we have identified the abnormal gene product. The recognition transforms curious or even tragic clinical problems that are quite beyond our capacity to understand or to treat into fascinating “experiments of nature” which, with proper study, are capable of revealing a rational sequence by which the abnormal gene product gives rise to the clinical expression and disease. In the process of gaining this understanding we quite often can obtain a truly remarkable expansion in our understanding of important underlying biological processes that permit us to devise, in some cases, new modes of therapy and prevention through a rational intervention in the sequence of events leading to the pathology of the disease.
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肌苷酸循环异常的人淋巴母细胞系对嘌呤核苷酸的再利用。
DOI：
--
发表时间：
1984
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Willis,RC;Kaufman,AH;Seegmiller,JE
通讯作者：
Seegmiller,JE
2-脱氧考福霉素在难治性淋巴增殖性恶性肿瘤中的生化和临床后果。
影响因子：
20.3
作者：
Grever,MR;Siaw,MF;Jacob,WF;Neidhart,JA;Miser,JS;Coleman,MS;Hutton,JJ;Balcerzak,SP
通讯作者：
Balcerzak,SP
人类腺苷脱氨酶抑制导致 ATP 耗竭。
DOI：
10.1073/pnas.77.10.6157
发表时间：
1980
影响因子：
11.1
作者：
Siaw,MF;Mitchell,BS;Koller,CA;Coleman,MS;Hutton,JJ
通讯作者：
Hutton,JJ
腺苷脱氨酶缺乏症和严重联合免疫缺陷病。
DOI：
10.1002/9780470122969.ch4
发表时间：
1980
期刊：
Advances in enzymology and related areas of molecular biology
影响因子：
--
作者：
Thompson,LF;Seegmiller,JE
通讯作者：
Seegmiller,JE