TACI mutation in common variable immunodeficiency and IgA deficiency.

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Common variable immunodeficiency (CVID ) is a heterogeneous primary immunodeficiency disease . Immunoglobulin A deficiency (IGAD ) shares some clinical , laboratory , and genetic features with CVID and occurs with relatively greater frequency in first -degree relatives of individuals with CVID . Recently , patients with CVID and IGAD have been found to have mutations of the gene TNFRSF 13 B encoding the TACI (transmembrane activator and calcium -modulator and cyclophilin-ligand interactor ), a member of the tumor necrosis factor -receptor superfamily . In this article , we review the various TACI mutations that have been identified so far . Although six mutations have been reported , no clear genotype-phenotype association has been shown to date . This suggests that the phenotypic expression of TACI mutation is affected by additional genetic and environmental factors . Analysis of a larger sample of patients will be needed to determine if the specific mutations are associated with a particular phenotype or predisposition to the common features of CVID and IGAD : autoimmunity , lymphoproliferation , or malignancy .