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TACI mutation in common variable immunodeficiency and IgA deficiency

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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.

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Authors and Affiliations

  1. Division of Immunology, Children’s Hospital, Boston, 300 Longwood Avenue, 02115, Boston, MA, USA

    Rima Rachid MD

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  1. Rima Rachid MD
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  2. Emanuela Castigli PhD
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  3. Raif S. Geha MD
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  4. Francisco A. Bonilla MD, PhD
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Correspondence to Rima Rachid MD.

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Rachid, R., Castigli, E., Geha, R.S. et al. TACI mutation in common variable immunodeficiency and IgA deficiency. Curr Allergy Asthma Rep 6, 357–362 (2006). https://doi.org/10.1007/s11882-996-0004-9

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  • DOI: https://doi.org/10.1007/s11882-996-0004-9

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