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A patient with nucleoside phosphorylase deficiency, selective t-cell deficiency, and autoimmune hemolytic anemia.

作者信息

Carapella-de Luca E, Aiuti F, Lucarelli P, Bruni L, Baroni C D, Imperato C, Roos D, Astaldi A

出版信息

J Pediatr. 1978 Dec;93(6):1000-3. doi: 10.1016/s0022-3476(78)81237-2.

DOI:10.1016/s0022-3476(78)81237-2
PMID:102751
Abstract
摘要

相似文献

1
A patient with nucleoside phosphorylase deficiency, selective t-cell deficiency, and autoimmune hemolytic anemia.
J Pediatr. 1978 Dec;93(6):1000-3. doi: 10.1016/s0022-3476(78)81237-2.
2
Cellular immune deficiency with autoimmune hemolytic anemia in purine nucleoside phosphorylase deficiency.嘌呤核苷磷酸化酶缺乏症伴自身免疫性溶血性贫血的细胞免疫缺陷
Am J Med. 1979 Jul;67(1):172-6. doi: 10.1016/0002-9343(79)90100-1.
3
Purine nucleoside phosphorylase deficiency associated with a fatal lymphoproliferative disorder.与致命性淋巴增殖性疾病相关的嘌呤核苷磷酸化酶缺乏症。
Arch Dis Child. 1981 Jul;56(7):563-5. doi: 10.1136/adc.56.7.563.
4
Purine nucleoside phosphorylase deficiency: a molecular model for selective loss of T cell function.嘌呤核苷磷酸化酶缺乏症：T细胞功能选择性丧失的分子模型。
J Immunol. 1979 Jun;122(6):2424-9.
5
Immunological aberrations in purine nucleoside phosphorylase deficiencies.
Ciba Found Symp. 1978(68):55-75. doi: 10.1002/9780470720516.ch5.
6
Phosphorylation of deoxyguanosine by B and T lymphocytes: evidence against selective trapping of deoxyguanosine by T lymphocytes in purine nucleoside phosphorylase deficiency.B淋巴细胞和T淋巴细胞对脱氧鸟苷的磷酸化作用：嘌呤核苷磷酸化酶缺乏时T淋巴细胞选择性捕获脱氧鸟苷的反证。
Clin Exp Immunol. 1980 Dec;42(3):523-9.
7
Purine nucleoside phosphorylase (PNP) deficiency: a therapeutic challenge.嘌呤核苷磷酸化酶（PNP）缺乏症：一项治疗挑战。
Adv Exp Med Biol. 1984;165 Pt A:53-9. doi: 10.1007/978-1-4684-4553-4_10.
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
Adenosine deaminase (ADA) and other enzyme abnormalities in immune deficiency states.免疫缺陷状态下的腺苷脱氨酶（ADA）及其他酶异常
Birth Defects Orig Artic Ser. 1978;14(6A):73-84.
10
Urinary purines in a patient with a severely defective T cell immunity and a purine nucleoside phosphorylase deficiency.一名T细胞免疫严重缺陷且患有嘌呤核苷磷酸化酶缺乏症患者的尿嘌呤情况。
Adv Exp Med Biol. 1977;76A:471-6. doi: 10.1007/978-1-4613-4223-6_59.

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Editorial to the Special Issue "Clinical Immunology in Italy, with Special Emphasis to Primary and Acquired Immunodeficiencies: A Commemorative Issue in Honor of Prof. Fernando Aiuti".特刊社论“意大利的临床免疫学，特别关注原发性和获得性免疫缺陷：纪念费尔南多·艾乌蒂教授的特刊”
Biomedicines. 2023 Nov 30;11(12):3191. doi: 10.3390/biomedicines11123191.
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Purine enzymes in patients with rheumatoid arthritis treated with methotrexate.接受甲氨蝶呤治疗的类风湿关节炎患者体内的嘌呤酶
Ann Rheum Dis. 2002 Dec;61(12):1060-4. doi: 10.1136/ard.61.12.1060.
3
Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency.
腺苷脱氨酶缺乏和嘌呤核苷磷酸化酶缺乏与常见变异型免疫缺陷病
Clin Diagn Lab Immunol. 1998 May;5(3):399-400. doi: 10.1128/CDLI.5.3.399-400.1998.
4
Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse.嘌呤核苷磷酸化酶基因座处的点突变会损害小鼠胸腺细胞的分化。
Proc Natl Acad Sci U S A. 1997 Mar 18;94(6):2522-7. doi: 10.1073/pnas.94.6.2522.
5
Evolution of chromosomal abnormalities in sequential cytogenetic studies of ataxia telangiectasia.共济失调毛细血管扩张症连续细胞遗传学研究中染色体异常的演变
Hum Genet. 1980;55(1):23-9. doi: 10.1007/BF00329122.
6
B cell hyperactivity and abnormalities in T cell markers and immunoregulatory function in a patient with nucleoside phosphorylase deficiency.一名核苷磷酸化酶缺乏症患者的B细胞功能亢进及T细胞标志物和免疫调节功能异常
Clin Exp Immunol. 1982 Dec;50(3):610-6.
7
Erythrocyte metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy by infusion of erythrocytes.通过输注红细胞进行酶替代治疗后嘌呤核苷磷酸化酶缺乏症中的红细胞代谢
J Clin Invest. 1980 Jan;65(1):103-8. doi: 10.1172/JCI109639.
8
Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization.人类嘌呤核苷磷酸化酶cDNA序列及基因组克隆特征分析。
Nucleic Acids Res. 1984 Jul 25;12(14):5779-87. doi: 10.1093/nar/12.14.5779.
9
Prenatal exclusion of purine nucleoside phosphorylase deficiency.
Eur J Pediatr. 1986 Apr;145(1-2):51-3. doi: 10.1007/BF00441852.
10
Deficiency of purine nucleoside phosphorylase activity in thymocytes from the immunodeficient diabetic BB rat.免疫缺陷型糖尿病BB大鼠胸腺细胞中嘌呤核苷磷酸化酶活性缺乏
Clin Exp Immunol. 1991 Nov;86(2):260-5. doi: 10.1111/j.1365-2249.1991.tb05807.x.