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

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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.