Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency

Amy Fleischman; Michael S. Hershfield; Stephan Toutain; Howard M. Lederman; Kathleen E. Sullivan; Mary Beth Fasano

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Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency

机译：常见可变免疫缺陷的腺苷脱氨酶缺乏症和嘌呤核苷磷酸化酶缺乏症。

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The clinical presentations of adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency are widely variable and include clinical and immunologic findings compatible with common variable immunodeficiency. The screening of 44 patients with common variable immunodeficiency failed to identify any individuals with deficiencies of these enzymes.

机译：腺苷脱氨酶缺乏症和嘌呤核苷磷酸化酶缺乏症的临床表现差异很大，包括与常见的可变免疫缺陷症相容的临床和免疫学发现。对44名具有共同可变免疫缺陷的患者的筛查未能鉴定出任何缺乏这些酶的个体。

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《Clinical and diagnostic laboratory immunology》 |1998年第3期|共2页
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Amy Fleischman; Michael S. Hershfield; Stephan Toutain; Howard M. Lederman; Kathleen E. Sullivan; Mary Beth Fasano;
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1. Purine Metabolism and Immunodeficiency: Urinary Purine Excretion as a Diagnostic Screening Test in Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency [J] . A. Sahota, Catherine F. Potter, H. Anne Simmonds, Clinical Science . 1978,第5期

机译：嘌呤代谢和免疫缺陷：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选试验
2. Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies [J] . GrunebaumE., CohenA., RoifmanC.M. Current opinion in allergy and clinical immunology . 2013,第6期

机译：理解和管理腺苷脱氨酶和嘌呤核苷磷酸化酶缺陷的最新进展
3. RESIDUAL PURINE NUCLEOSIDE PHOSPHORYLASE ACTIVITY IN A NEW DUTCH PATIENT WITH PNP-DEFICIENCY AND CELLULAR IMMUNODEFICIENCY: 172 [J] . G Rijksen, B J M Zegers, L J M Spaapen, Pediatric Research . 1985,第7期

机译：患有PNP缺乏和细胞免疫缺陷的新型荷兰患者中残留的嘌呤核苷磷酸酶活性：172
4. An enzyme assay mass screening system for adenosine deaminase deficiency from dried blood spots using a DART MS/MS [C] . Hideki Nakajima, Teruhiko Miwa, Kazuhiro Kida, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2013

机译：一种酶测定质量筛选系统，用于使用Dart MS / MS从干燥血斑缺乏的腺苷脱氨酶缺乏
5. Zinc Finger Nucleases for Site-Specific Correction of Adenosine Deaminase Deficiency [D] . Joglekar, Alok Vishnu 2013

机译：锌指核酸酶用于腺苷脱氨酶缺乏症的特定部位校正
6. Note: Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency [O] . Amy Fleischman, Michael S. Hershfield, Stephan Toutain, 1998

机译：注意：常见变量免疫缺陷患者的腺苷脱氨酶缺乏症和嘌呤核苷磷酸化酶缺乏症。
7. Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: Possible role of nucleoside kinase(s) [O] . Carson, Dennis A., Kaye, Jonathan, Seegmiller, J. E. 1977

机译：腺苷脱氨酶缺乏症和嘌呤核苷磷酸化酶缺乏症的淋巴特异性毒性：核苷激酶的可能作用

Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency

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