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腺苷脱氨酶和嘌呤核苷磷酸化酶缺乏所致免疫缺陷：一种简易诊断试验。

Immune deficiency due to adenosine deaminase and purine nucleoside phosphorylase deficiency: a simple diagnostic test.

作者信息

Maddocks J L, Al-Safi S A, Wilson G

出版信息

J Clin Pathol. 1984 Nov;37(11):1305-7. doi: 10.1136/jcp.37.11.1305.

DOI:10.1136/jcp.37.11.1305
PMID:6438186
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC499004/
Abstract

A simple method is described for diagnosing adenosine deaminase and purine nucleoside phosphorylase deficiency using urine. Cellulose thin layer chromatography of 1 microliter of urine from affected children was performed and deoxyadenosine and deoxyguanosine were easily detected by phosphorescence at the temperature of liquid nitrogen. This test is not expensive and can be done in any laboratory. It should be suitable for diagnostic screening in patients with immune deficiency.

摘要

描述了一种使用尿液诊断腺苷脱氨酶和嘌呤核苷磷酸化酶缺乏症的简单方法。对患病儿童的1微升尿液进行纤维素薄层层析，在液氮温度下通过磷光很容易检测到脱氧腺苷和脱氧鸟苷。该检测成本不高，可在任何实验室进行。它应适用于免疫缺陷患者的诊断筛查。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d27d/499004/d1316a5f8542/jclinpath00182-0106-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d27d/499004/d1316a5f8542/jclinpath00182-0106-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d27d/499004/d1316a5f8542/jclinpath00182-0106-a.jpg

相似文献

1
Immune deficiency due to adenosine deaminase and purine nucleoside phosphorylase deficiency: a simple diagnostic test.腺苷脱氨酶和嘌呤核苷磷酸化酶缺乏所致免疫缺陷：一种简易诊断试验。
J Clin Pathol. 1984 Nov;37(11):1305-7. doi: 10.1136/jcp.37.11.1305.
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本文引用的文献

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ON EXCITATION OF BIOLOGICAL SUBSTANCES.论生物物质的激发
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Further data on the adenosine deaminase (ADA) polymprphism and a report of a new phenotype.腺苷脱氨酶（ADA）多态性的更多数据及一种新表型的报告。
Ann Hum Genet. 1969 May;32(4):361-7. doi: 10.1111/j.1469-1809.1969.tb00087.x.
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Inherited variants of human nucleoside phosphorylase.人类核苷磷酸化酶的遗传变异体。
Ann Hum Genet. 1971 May;34(4):395-408. doi: 10.1111/j.1469-1809.1971.tb00252.x.
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Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity.两名细胞免疫严重受损患者的腺苷脱氨酶缺乏症。
Lancet. 1972 Nov 18;2(7786):1067-9. doi: 10.1016/s0140-6736(72)92345-8.
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Separation and detection of picomole quantities of azathioprine metabolites.皮摩尔量硫唑嘌呤代谢物的分离与检测。
Br J Clin Pharmacol. 1975 Aug;2(4):359-60. doi: 10.1111/j.1365-2125.1975.tb02785.x.
6
Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase.嘌呤核苷磷酸化酶缺乏患者的异常嘌呤代谢和嘌呤过度生成。
N Engl J Med. 1976 Dec 23;295(26):1449-54. doi: 10.1056/NEJM197612232952603.
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Urinary excretion of purines, purine nucleosides, and pseudouridine in adenosine deaminase deficiency.
Biochem Med. 1978 Oct;20(2):180-99. doi: 10.1016/0006-2944(78)90065-0.
8
Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency.嘌呤核苷磷酸化酶缺乏与选择性细胞免疫缺陷相关。
N Engl J Med. 1977 Mar 24;296(12):651-5. doi: 10.1056/NEJM197703242961203.
9
Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease.腺苷脱氨酶缺乏伴重症联合免疫缺陷病中腺嘌呤脱氧核苷和脱氧核苷酸的过量产生。
J Clin Invest. 1978 Oct;62(4):884-7. doi: 10.1172/JCI109201.
10
Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency.嘌呤代谢与免疫缺陷：尿嘌呤排泄作为腺苷脱氨酶和嘌呤核苷磷酸化酶缺乏症的诊断筛查试验
Clin Sci Mol Med. 1978 May;54(5):579-84. doi: 10.1042/cs0540579.