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.
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。
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