title: TACI mutation in common variable immunodeficiency and IgA deficiency.
abstract: 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 TNFRSF13B 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.
authors.affiliation: Division of Immunology, Children's Hospital, Boston,300 Longwood Avenue, Boston, MA 02115, USA. rima.rachid@childrens.harvard.edu
authors.forename: Rima
authors.initials: R
authors.lastname: Rachid
authors.forename: Emanuela
authors.initials: E
authors.lastname: Castigli
authors.forename: Raif S
authors.initials: RS
authors.lastname: Geha
authors.forename: Francisco A
authors.initials: FA
authors.lastname: Bonilla
mesh_terms: D000818:Animals; D017074:Common Variable Immunodeficiency / Q000235:genetics*; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics*; D017578:Immunoglobulin Class Switching; D009154:Mutation; D053303:Transmembrane Activator and CAML Interactor Protein / Q000235:genetics*
chemical_list: C108467:TNFRSF13B protein, human; D053303:Transmembrane Activator and CAML Interactor Protein