The role of TACI in the molecular pathogenesis of Common Variable immunodeficiency

常见变异性免疫缺陷（CVID）是一种影响免疫系统的疾病，导致无法抵抗感染，自身免疫问题以及在某些情况下淋巴瘤的发展。CVID的基因缺陷最近才被发现。基因TACI在CVID中是异常的，但我们还不知道为什么TACI缺陷会导致疾病的发展。我们将首先检查超过400例CVID患者的TACI异常，以便我们能够了解这些异常的频率。接下来，我们计划研究异常TACI蛋白与正常TACI蛋白结合时如何工作和发挥功能。我们还计划创建一个小鼠模型，其中TACI基因以类似于人类状况的方式存在缺陷。这将为我们提供一个活的系统，我们可以检查TACI缺陷对免疫系统的影响。对这些TACI缺陷的更深入了解将使我们能够在未来开发治疗CVID的方法。

Common variable immunodeficiency (CVID) is a condition which affects the immune system and results in an inability to fight infection, problems with autoimmunity and in some cases development of lymphoma. The gene defect in CVID has only recently been identified. The gene, TACI, is abnormal in CVID but we do not as yet understand why TACI defects leads to the development of the disease. We will first check over 400 CVID patients for abnormalities in TACI so that we can understand how frequent these abnormalities are. Next we plan to look at how abnormal TACI protein works and functions when placed in combination with normal TACI proteins. We also plan to create a mouse model where the TACI gene has been made defective in a way similar to the human condition. This will provide us with a living system where we can examine the effects of TACI defects on the immune system. A greater understanding of these TACI defects will allow us to develop ways of treating CVID in the future.