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相似文献

1
Normal B-lymphocyte function in patients with Lesch-Nyhan syndrome and HGPRT deficiency.莱施-奈恩综合征和次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症患者的正常B淋巴细胞功能。
Clin Exp Immunol. 1978 Feb;31(2):205-8.
2
[Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].[次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症的临床谱：12例研究]
Med Clin (Barc). 1994 May 14;102(18):681-7.
3
Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome.利用植物血凝素刺激的淋巴细胞来研究次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HGPRT）缺乏对莱施-奈恩综合征中多核苷酸和蛋白质合成的影响。
J Med Genet. 1976 Apr;13(2):91-5. doi: 10.1136/jmg.13.2.91.
4
Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation.莱施-奈恩综合征：行为表现减弱病例的生化特征
Enzyme. 1984;31(1):55-60.
5
[Lesch-Nyhan disease studied in intact fibroblasts].[在完整成纤维细胞中研究的莱施-奈恩病]
An Esp Pediatr. 1983 May;18(5):394-8.
6
Immunological observations on patients with Lesch-Nyhan syndrome, and on the role of de-novo purine synthesis in lymphocyte transformation.对莱施-奈恩综合征患者的免疫学观察，以及从头嘌呤合成在淋巴细胞转化中的作用。
Lancet. 1975 Dec 13;2(7946):1179-83. doi: 10.1016/s0140-6736(75)92661-6.
7
Differential responses to mitogen stimulation in lymphocytes from normal individuals and Lesch-Nyhan patients: influence of the bicarbonate buffer system.正常个体和莱施-奈恩病患者淋巴细胞对丝裂原刺激的不同反应：碳酸氢盐缓冲系统的影响
Clin Exp Immunol. 1980 Nov;42(2):294-302.
8
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.次黄嘌呤-鸟嘌呤磷酸核糖转移酶：莱施-奈恩综合征患者红细胞中突变酶的特征
J Clin Invest. 1972 Jul;51(7):1805-12. doi: 10.1172/JCI106982.
9
Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation.脑瘫的鉴别诊断：无自残行为的莱施-奈恩综合征。
Can Med Assoc J. 1984 May 15;130(10):1323-4.
10
[Activity of erythrocyte purine phosphoribosyltransferases in Lesch-Nyhan syndrome].[莱施-奈恩综合征中红细胞嘌呤磷酸核糖基转移酶的活性]
Vopr Med Khim. 1981 Mar-Apr;27(2):215-20.

引用本文的文献

1
Gene Expression Analysis of HPRT-Deficient Cells Maintained with Physiological Levels of Folic Acid.用生理水平叶酸维持的次黄嘌呤磷酸核糖转移酶缺陷细胞的基因表达分析。
Cells. 2025 Jul 18;14(14):1105. doi: 10.3390/cells14141105.
2
Molecular characterization of hypoxanthine guanine phosphoribosyltransferase mutant T cells in human blood: The concept of surrogate selection for immunologically relevant cells.人血液中次黄嘌呤鸟嘌呤磷酸核糖转移酶突变 T 细胞的分子特征：免疫相关细胞替代选择的概念。
Mutat Res Rev Mutat Res. 2022 Jan-Jun;789:108414. doi: 10.1016/j.mrrev.2022.108414. Epub 2022 Mar 11.
3
Crystal structure of Escherichia coli purine nucleoside phosphorylase in complex with 7-deazahypoxanthine.大肠杆菌嘌呤核苷磷酸化酶与7-脱氮次黄嘌呤复合物的晶体结构
Acta Crystallogr F Struct Biol Commun. 2018 Jun 1;74(Pt 6):355-362. doi: 10.1107/S2053230X18006337. Epub 2018 May 23.
4
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.在莱施-奈恩杂合子中，针对缺乏次黄嘌呤磷酸核糖基转移酶（HPRT）的血细胞的选择发生在多能干细胞水平。
Hum Genet. 1995 Dec;96(6):674-80. doi: 10.1007/BF00210298.
5
Differential responses to mitogen stimulation in lymphocytes from normal individuals and Lesch-Nyhan patients: influence of the bicarbonate buffer system.正常个体和莱施-奈恩病患者淋巴细胞对丝裂原刺激的不同反应：碳酸氢盐缓冲系统的影响
Clin Exp Immunol. 1980 Nov;42(2):294-302.
6
Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency.嘌呤核苷磷酸化酶缺乏的红细胞中嘌呤和嘧啶代谢的改变。
Biochem Genet. 1980 Apr;18(3-4):221-34. doi: 10.1007/BF00484238.

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Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
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The enzymatic spectrophotometric method for determination of uric acid.用于测定尿酸的酶促分光光度法。
J Lab Clin Med. 1959 Dec;54:903-13.
3
A field study in triple immunization (diphtheria, pertussis, tetanus). Estimation of 3 antibodies in infant sera from a single heel puncture using agglutination techniques.
J Pediatr. 1960 Dec;57:836-43. doi: 10.1016/s0022-3476(60)80134-5.
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Uric acid production in gout.痛风中的尿酸生成
J Clin Invest. 1961 Jul;40(7):1304-14. doi: 10.1172/JCI104360.
5
Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout.尿尿酸与肌酐比值——嘌呤代谢遗传性疾病的筛查试验。X连锁脑性瘫痪和痛风一种变异型中的磷酸核糖转移酶（PRT）缺乏症。
J Pediatr. 1968 Oct;73(4):583-92. doi: 10.1016/s0022-3476(68)80274-4.
6
Pernicous anaemia, hypogammaglobulinaemia, and altered lymphocyte reactivity. A family study.恶性贫血、低丙种球蛋白血症及淋巴细胞反应性改变。一项家族研究。
Clin Exp Immunol. 1972 Jun;11(2):187-99.
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Molecular form of adenosine deaminase in severe combined immunodeficiency.重症联合免疫缺陷中腺苷脱氨酶的分子形式
Biochem Biophys Res Commun. 1974 Apr 8;57(3):590-5. doi: 10.1016/0006-291x(74)90587-7.
8
Human phosphoribosylpyrophosphate synthetase. Distribution, purification, and properties.人磷酸核糖焦磷酸合成酶。分布、纯化及性质。
J Biol Chem. 1971 Sep 25;246(18):5739-48.
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Polyclonal gammopathy and lymphoproliferation after transfer factor in severe combined immunodeficiency disease.
N Engl J Med. 1973 Dec 27;289(26):1385-9. doi: 10.1056/NEJM197312272892602.
10
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.

莱施-奈恩综合征和次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症患者的正常B淋巴细胞功能。

Normal B-lymphocyte function in patients with Lesch-Nyhan syndrome and HGPRT deficiency.

作者信息

Gelfand E W, Fox I H, Stuckey M, Dosch H M

出版信息

Clin Exp Immunol. 1978 Feb;31(2):205-8.

PMID:306325
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1541218/
Abstract

Immunological and biochemical studies were carried out in two patients with the Lesch-Nyhan syndrome. No abnormalities of T- or B-lymphocyte function could be demonstrated in the presence of hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency.

摘要

对两名患有莱施-奈恩综合征的患者进行了免疫学和生物化学研究。在次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HGPRT）缺乏的情况下，未发现T淋巴细胞或B淋巴细胞功能异常。