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本文引用的文献

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Immunology. 2006 Jun;118(2):250-6. doi: 10.1111/j.1365-2567.2006.02363.x.
2
Geographical distribution and disease associations of the CD45 exon 6 138G variant.CD45外显子6 138G变异体的地理分布及疾病关联
Immunogenetics. 2006 Apr;58(2-3):235-9. doi: 10.1007/s00251-006-0099-0. Epub 2006 Mar 15.
3
The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients.自身免疫性淋巴增生性疾病的广泛谱系:31例患者的分子基础、临床特征及长期随访
Haematologica. 2006 Apr;91(4):538-41. Epub 2006 Mar 15.
4
Combinations of CD45 isoforms are crucial for immune function and disease.CD45异构体的组合对免疫功能和疾病至关重要。
J Immunol. 2006 Mar 15;176(6):3417-25. doi: 10.4049/jimmunol.176.6.3417.
5
Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection.C77G携带者中CD45表达的改变会影响丙型肝炎感染的免疫功能和转归。
J Med Genet. 2006 Aug;43(8):678-84. doi: 10.1136/jmg.2005.040485. Epub 2006 Feb 27.
6
Altered CD45 expression and disease.CD45表达改变与疾病。
Trends Immunol. 2006 Mar;27(3):146-53. doi: 10.1016/j.it.2006.01.001. Epub 2006 Jan 18.
7
The 77C->G mutation in the human CD45 (PTPRC) gene leads to increased intensity of TCR signaling in T cell lines from healthy individuals and patients with multiple sclerosis.人类CD45(PTPRC)基因中的77C→G突变导致来自健康个体和多发性硬化症患者的T细胞系中TCR信号强度增加。
J Immunol. 2006 Jan 15;176(2):931-8. doi: 10.4049/jimmunol.176.2.931.
8
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与CD45 C77G多态性相关的罕见病例表现。

Unusual case presentations associated with the CD45 C77G polymorphism.

作者信息

Tchilian E Z, Gil J, Navarro M L, Fernandez-Cruz E, Chapel H, Misbah S, Ferry B, Renz H, Schwinzer R, Beverley P C L

机构信息

The Edward Jenner Institute for Vaccine Research, Compton, Berkshire, UK.

出版信息

Clin Exp Immunol. 2006 Dec;146(3):448-54. doi: 10.1111/j.1365-2249.2006.03230.x.

DOI:10.1111/j.1365-2249.2006.03230.x
PMID:17100764
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1810399/
Abstract

CD45, the leucocyte common antigen, is a haematopoietic cell specific tyrosine phosphatase. Human polymorphic CD45 variants are associated with autoimmune and infectious diseases and alter the phenotype and function of lymphocytes, establishing CD45 as an important regulator of immune function. Here we report four patients with diverse diseases with unusual clinical features. All four have the C77G polymorphism of CD45 exon 4, which alters the splicing and CD45RA/CD45R0 phenotype of lymphocytes. We suggest that C77G may be a contributing factor in these unusual cases.

摘要

白细胞共同抗原CD45是一种造血细胞特异性酪氨酸磷酸酶。人类多态性CD45变体与自身免疫性疾病和感染性疾病相关,并改变淋巴细胞的表型和功能,确立了CD45作为免疫功能的重要调节因子。在此,我们报告了4例患有不同疾病且具有不寻常临床特征的患者。所有4例患者均有CD45第4外显子的C77G多态性,该多态性改变了淋巴细胞的剪接及CD45RA/CD45R0表型。我们认为C77G可能是这些不寻常病例中的一个促成因素。