Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

TACI and CVID

  • Zoya Eskandarian
  • Bodo GrimbacherEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_28-1

Introduction

Common variable immunodeficiency (CVID) is one of the most prevalent primary immunodeficiency syndromes, affecting approximately 1 in 25,000 (Primary immunodeficiency diseases 1999). The main immunological defect in CVID is a failure of B cells to produce immunoglobulin. This antibody deficiency predisposes patients to recurrent infections, most frequently of the respiratory tract (Yong et al. 2011). Further clinical manifestations may include autoimmunity, enteropathy, granulomatous disease, lymphoproliferation, or malignancy (Hammarstrom et al. 2000). Although generally sporadic, approximately 10% of CVID patients demonstrate familial clustering. Furthermore, it is well established that IgA deficiency (IgAD) can also occur in family members of patients with CVID (Vorechovsky et al. 2000). These observations suggested a genetic background of disease. In the past decade, a growing number of genes and mutations associated with CVID/IgAD have been identified....

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References

  1. Bacchelli C, Buckland KF, Buckridge S, Salzer U, Schneider P, Thrasher AJ, Gaspar HB. The C76R transmembrane activator and calcium modulator cyclophilin ligand interactor mutation disrupts antibody production and B-cell homeostasis in heterozygous and homozygous mice. Am Acad Allergy Asthma Immunol. 2011;  https://doi.org/10.1016/j.jaci.2011.02.037.CrossRefGoogle Scholar
  2. Balazs M, Martin F, Zhou T, Kearney J. Blood dendritic cells interact with splenic marginal zone B cells to initiate T-independent immune responses. Immunity. 2002;17:341–52.CrossRefGoogle Scholar
  3. Banner D, D’Arcy A, Janes W, Gentz R, Schoenfeld H, Broger CL, et al. Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation. Cell Death Differ. 1993;73:431–45.Google Scholar
  4. Bodmer J, Schneider P, Tschopp J. The molecular architecture of the TNF superfamily. Trends Biochem Sci. 2002;27:19–26.CrossRefGoogle Scholar
  5. Bossen C, et al. TACI, unlike BAFF-R, is solely activated by oligomeric BAFF and APRIL to support survival of activated B cells and plasmablasts. Blood. 2008;111:1004–12.CrossRefGoogle Scholar
  6. Castigli E, Wilson SA, Scott S, Dedeoglu F, Xu S, Lam KP, et al. TACI and BAFF-R mediate isotype switching in B cells. J Exp Med. 2005a;201:35–9.CrossRefGoogle Scholar
  7. Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, Geha RS. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005b;37(8):829.CrossRefGoogle Scholar
  8. Castigli E, et al. Transmembrane activator and calcium modulator and cyclophilin ligand interactor enhances CD40-driven plasma cell differentiation. J Allergy Clin Immunol. 2007;120:885–91.CrossRefGoogle Scholar
  9. Darce JR, Arendt BK, Wu X, Jelinek DF. Regulated expression of BAFF-binding receptors during human B-cell differentiation. J Immunol. 2007;179:7276–86.CrossRefGoogle Scholar
  10. Hammarstrom ML, Vorechovsky I, Webster D. Selective IgA deficiency (SIgAD) and common variable immunode®ciency (CVID). J of Clin Exp Immunol. 2000;120:225–31.CrossRefGoogle Scholar
  11. He B, et al. Intestinal bacteria trigger T cell-independent immunoglobulin A2 class switching by inducing epithelial-cell secretion of the cytokine APRIL. Immunity. 2007;26:812–26.CrossRefGoogle Scholar
  12. He B, Santamaria R, Xu W, Cols M, Chen K, Puga I, Shan M, et al. The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nat Immunol. 2010;  https://doi.org/10.1038/ni.1914.CrossRefGoogle Scholar
  13. Hymowitz S, Patel D, Wallweber H, Runyon S, Yan M, Yin J, et al. Structures of APRIL-receptor complexes: like BCMA, TACI employs only a single cysteine-rich domain for high affinity ligand binding. J Biol Chem. 2005;280:7218–27.CrossRefGoogle Scholar
  14. Khare SD, Hsu H. The role of TALL-1 and APRIL in immune regulation. Trends Immunol. 2001;22:61–3.CrossRefGoogle Scholar
  15. Lee JJ, Rauter I, Garibyan L, Ozcan E, Sannikova T, Dillon SR, et al. The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. Blood. 2009;114:2254–62.CrossRefGoogle Scholar
  16. Lee JJ, Jabara HH, Garibyan L, Rauter I, Sannikova T, Dillon SR, Bram R, Geha RS. The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency. J Allergy Clin Immunol. 2010;126(6):1234–41.e2.CrossRefGoogle Scholar
  17. Litinskiy MB, et al. DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat Immunol. 2002;3:822–9.CrossRefGoogle Scholar
  18. Ng LG, Sutherland APR, Newton R, et al. B cell activating factor belonging to the TNF family (BAFF)-R is the principal BAFF receptor facilitating BAFF costimulation of circulating T and B cells. J Immunol. 2004;173:807–17.CrossRefGoogle Scholar
  19. Novak AJ, Darce JR, Arendt BK, et al. Expression of BCMA, TACI, and BAFF-R in multiple myeloma: a mechanism for growth and survival. Blood. 2004a;103:689–94.CrossRefGoogle Scholar
  20. Novak AJ, Grote DM, Stenson M, et al. Expression of BLyS and its receptors in B-cell non-Hodgkin lymphoma: correlation with disease activity and patient outcome. Blood. 2004b;104:2247–53.CrossRefGoogle Scholar
  21. Primary immunodeficiency diseases. Report of an IUIS scientific committee. International Union of Immunological Societies. Clin Exp Immunol. 1999;118(suppl 1):1–28.Google Scholar
  22. Romberg N, Chamberlain N, Saadoun D, Gentile M, Kinnunen T, Ng YS, Virdee M, et al. CVID-associated TACI mutations affect autoreactive B cell selection and activation. J Clin Invest. 2013;123(10):4283–93.CrossRefGoogle Scholar
  23. Romberg N, Virdee M, Chamberlain N, Oe T, Schickel J, Perkins T, Cantaert T, Rachid R, Rosengren S, Palazzo R, Geha R, Cunningham-Rundles C, Meffre E. TNF receptor superfamily member 13b (TNFRSF13B) hemizygosity reveals transmembrane activator and CAML interactor haploinsufficiency at later stages of B-cell development. J Allergy Clin Immunol. 2015;  https://doi.org/10.1016/j.jaci.
  24. Sadanaga A, et al. Protection against autoimmune nephritis in MyD88-deficient MRL/lpr mice. Arthritis Rheum. 2007;56(5):1618–1628.  https://doi.org/10.1002/art.22571.CrossRefGoogle Scholar
  25. Salzer U, Chapel HM, Webster ADB, Pan-Hammarström Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schäffer AA, Hammarström L, Grimbacher B. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet. 2005;37(8):820.CrossRefGoogle Scholar
  26. Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, et al. Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes. Blood. 2009;113(9):1967–76.CrossRefGoogle Scholar
  27. Schneider P. The role of APRIL and BAFF in lymphocyte activation. Curr Opin Immunol. 2005;17:282–9.CrossRefGoogle Scholar
  28. Seshasayee D, Valdez P, Yan M, Dixit VM, Tumas D, Grewal IS. Loss of TACI causes fatal lymphoproliferation and autoimmunity, establishing TACI as an inhibitory BLyS receptor. Immunity, 2003;18:279–288.CrossRefGoogle Scholar
  29. von Bulow GU, van Deursen JM, Bram RJ. Regulation of the T-independent humoral response by TACI. Immunity. 2001;14:573–82.CrossRefGoogle Scholar
  30. Vorechovsky I, Cullen M, Carrington M, Hammarstrom L, Webster ADB. Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families. J Immunol. 2000;164:4408–16.CrossRefGoogle Scholar
  31. Yan M, Wang H, Chan B, Roose-Girma M, Erickson S, Baker T, et al. Activation and accumulation of B cells in TACI-deficient mice. Nat Immunol. 2001;2:638–43.CrossRefGoogle Scholar
  32. Yong FP, Thaventhiran JE, Grimbacher B. A rose is a rose but CVID is not CVID: common variable immunodeficiency (CVID), what do we know in 2011. Adv Immunol. 2011;111:46–107.Google Scholar

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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of MedicineAlbert-Ludwigs-University of FreiburgFreiburgGermany
  2. 2.DZIF – German Center for Infection Research, Satellite Center FreiburgFreiburgGermany
  3. 3.CIBSS – Centre for Integrative Biological Signalling StudiesAlbert-Ludwigs UniversityFreiburgGermany
  4. 4.RESIST – Cluster of Excellence 2155 to Hanover Medical School, Satellite Center FreiburgFreiburgGermany
  5. 5.Institute of Immunity and Transplantation, Royal Free HospitalUniversity College LondonLondonUK
  6. 6.Faculty of BiologyAlbert-Ludwigs-University of FreiburgFreiburgGermany

Section editors and affiliations

  • Klaus Warnatz
    • 1
  • Joris M. van Montfrans
    • 2
  1. 1.Center for Chronic ImmunodeficiencyUniversity Medical Center and University of FreiburgFreiburgGermany
  2. 2.UMC UtrechtUtrechtNetherlands