TACI and CVID
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Common variable immunodeficiency (CVID) is one of the most prevalent primary immunodeficiency syndromes, affecting approximately 1 in 25,000 (Primary immunodeficiency diseases 1999). The main immunological defect in CVID is a failure of B cells to produce immunoglobulin. This antibody deficiency predisposes patients to recurrent infections, most frequently of the respiratory tract (Yong et al. 2011). Further clinical manifestations may include autoimmunity, enteropathy, granulomatous disease, lymphoproliferation, or malignancy (Hammarstrom et al. 2000). Although generally sporadic, approximately 10% of CVID patients demonstrate familial clustering. Furthermore, it is well established that IgA deficiency (IgAD) can also occur in family members of patients with CVID (Vorechovsky et al. 2000). These observations suggested a genetic background of disease. In the past decade, a growing number of genes and mutations associated with CVID/IgAD have been identified....
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