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TACI Deficiency

  • Astrid Bergbreiter
  • Ulrich SalzerEmail author
Chapter
Part of the Rare Diseases of the Immune System book series (RDIS)

Abstract

The tumor necrosis factor (TNF) superfamily member transmembrane activator and CAML interactor (TACI, encoded by TNFRSF13B) belongs to a group of molecules which regulate B cell homeostasis, differentiation, and function. Heterozygous, compound heterozygous, or homozygous alterations in the TNFRSF13B gene are associated with various forms of antibody deficiency including IgA deficiency and CVID. These genetic alterations have a low penetrance and are generally not regarded as disease causing, but may be important genetic cofactors affecting especially the T cell-independent antibody responses and increasing risks for autoimmunity and lymphoproliferation. Therefore TACI deficiency is currently viewed as a disease-modifying factor in various forms of antibody deficiency. The management of CVID patients carrying a TACI mutation does not differ from conventional CVID. However, one should take into account the higher rates of autoimmune and lymphoproliferative complications seen in these individuals.

Keywords

TNFRSF13B TACI BAFF APRIL CVID 

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Authors and Affiliations

  1. 1.Department of DermatologyUniversity Hospital RegensburgRegensburgGermany
  2. 2.Department of Rheumatology and Clinical Immunology, Faculty of MedicineMedical Center—University of FreiburgFreiburg im BreisgauGermany
  3. 3.Center for Chronic Immunodeficiency (CCI), Faculty of MedicineMedical Center—University of FreiburgFreiburg im BreisgauGermany

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