TACI mutation in common variable immunodeficiency and IgA deficiency

Curr Allergy Asthma Rep. 2006 Sep;6(5):357-62. doi: 10.1007/s11882-996-0004-9.


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.

Publication types

  • Review

MeSH terms

  • Animals
  • Common Variable Immunodeficiency / genetics*
  • Humans
  • IgA Deficiency / genetics*
  • Immunoglobulin Class Switching
  • Mutation
  • Transmembrane Activator and CAML Interactor Protein / genetics*


  • TNFRSF13B protein, human
  • Transmembrane Activator and CAML Interactor Protein