Naturally occurring mutation affecting the MyD88-binding site of TNFRSF13B impairs triggering of class switch recombination

European Journal of Immunology

Volumn 43, Issue 3, 2013, Pages 805-814

  Almejun, Maria B ^a   Cols, Montserrat ^b   Zelazko, Marta ^a   Oleastro, Matias ^a   Cerutti, Andrea ^b   Oppezzo, Pablo ^c   Cunningham Rundles, Charlotte ^b   Danielian, Silvia ^a  

^a HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c INSTITUT PASTEUR DE MONTEVIDEO   (Uruguay)

Author keywords

Class switch recombination; Common variable immunodeficiency; MyD88; TACI

Indexed keywords

ACTIVATION INDUCED CYTIDINE DEAMINASE; APRIL PROTEIN; CD40 LIGAND; IMMUNOGLOBULIN G2; MYELOID DIFFERENTIATION FACTOR 88; TOLL LIKE RECEPTOR 9; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR;

ARTICLE; B LYMPHOCYTE; BINDING SITE; CONTROLLED STUDY; GENE LOCATION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOGLOBULIN DEFICIENCY; MISSENSE MUTATION; PRIORITY JOURNAL;

ADOLESCENT; ANTIGENS, CD40; B-LYMPHOCYTES; BINDING SITES; CELLS, CULTURED; COMMON VARIABLE IMMUNODEFICIENCY; HUMANS; IMMUNOGLOBULIN CLASS SWITCHING; MUTATION; MYELOID DIFFERENTIATION FACTOR 88; PROTEIN BINDING; SIGNAL TRANSDUCTION; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR PROTEIN; V(D)J RECOMBINATION;

EID: 84874961531     PISSN: 00142980     EISSN: 15214141     Source Type: Journal    
DOI: 10.1002/eji.201242945     Document Type: Article

References (36)

1. Cooper, M. D. and Alder, M. N., The evolution of adaptive immune systems. Cell 2006. 124: 815-822.
2. Stavnezer, J., Guikema, J. E. and Schrader, C. E., Mechanism and regulation of class switch recombination. Ann. Rev. Immunol. 2008. 26: 261-292.
3. Xu, Z., Zan, H., Pone, E. J., Mai, T. and Casali, P., Immunoglobulin class-switch DNA recombination: induction, targeting and beyond. Nat. Rev. Immunol. 2012. 12: 517-531.
4. Muramatsu, M., Kinoshita, K., Fagarasan, S., Yamada, S., Shinkai, Y. and Honjo, T., Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme. Cell 2000. 102: 553-563.
5. Litinskiy, M. B., Nardelli, B., Hilbert, D. M., He, B., Schäffer, A. A., Casali, P. and Cerutti, A., DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat. Immunol. 2002. 3: 822-829.
6. Schneider, P., The role of APRIL and BAFF in lymphocyte activation. Curr. Opin. Immunol. 2005. 17: 282-289.
7. Castigli, E., Wilson, S. A., Elkhal, A., Ozcan, E., Garibyan, L. and Geha, R. S., Transmembrane activator and calcium modulator and cyclophilin ligand interactor enhances CD40-driven plasma cell differentiation. J. Allergy Clin. Immunol. 2007. 120: 885-891.
8. Ozcan, E., Rauter, I., Garibyan, L., Dillon, S. R. and Geha, R. S., Toll-like receptor 9, transmembrane activator and calcium-modulating cyclophilin ligand interactor, and CD40 synergize in causing B-cell activation. J. Allergy Clin. Immunol. 2011. 128: 601-609; e601-e604.
9. Fagarasan, S. and Honjo, T., T-Independent immune response: new aspects of B-cell biology. Science 2000. 290: 89-92.
10. He, B., Xu, W., Santini, P. A., Polydorides, A. D., Chiu, A., Estrella, J., Shan, M. et al., Intestinal bacteria trigger T cell-independent immunoglobulin A(2) class switching by inducing epithelial-cell secretion of the cytokine APRIL. Immunity 2007. 26: 812-826.
11. Katsenelson, N., Kanswal, S., Puig, M., Mostowski, H., Verthelyi, D. and Akkoyunlu, M., Synthetic CpG oligodeoxynucleotides augment BAFF- and APRIL-mediated immunoglobulin secretion. Eur. J. Immunol. 2007. 37: 1785-1795.
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. 11: 836-845.
13. Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R., Bonilla, F., Schneider, L. and Geha, R. S., TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat. Genet. 2005. 37: 829-834.
14. Salzer, U., Chapel, H. M., Webster, A. D., Pan-Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter, H. H. et al., Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat. Genet. 2005. 37: 820-828.
15. Cunningham-Rundles, C. and Bodian, C., Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin. Immunol. 1999. 92: 34-48.
16. Wehr, C., Peter, H. H. and Warnatz, K., Response: improving classification in CVID. Blood 2008. 112: 446-447.
17. Almejun, M. B., Sajaroff, E., Galicchio, M., Oleastro, M., Bernasconi, A., Zelazko, M. and Danielian, S., Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency. J. Clin. Immunol. 2012. 32: 89-97.
18. Pan, Q., Petit-Frére, C., Lähdesmäki, A., Gregorek, H., Chrzanowska, K. H. and Hammarström, L., Alternative end joining during switch recombination in patients with Ataxia-Telangiectasia. Eur. J. Immunol. 2002. 32: 1300-1308.
19. Bossen, C. and Schneider, P., BAFF, APRIL and their receptors: structure, function and signaling. Semin. Immunol. 2006. 18: 263-275.
20. Cunningham-Rundles, C., Radigan, L., Knight, A. K., Zhang, L., Bauer, L. and Nakazawa, A., TLR9 activation is defective in common variable immune deficiency. J. Immunol. 2006. 176: 1978-1987.
21. Yu, J. E., Knight, A. K., Radigan, L., Marron, T. U., Zhang, L., Sanchez-Ramon, S. and Cunningham-Rundles, C., Toll-like receptor 7 and 9 defects in common variable immunodeficiency. J. Allergy Clin. Immunol. 2009. 124: 349-356, 356; e341-e343.
22. Lee, J. J.-Y., Rauter, I., Garibyan, L., Ozcan, E., Sannikova, T., Dillon, S. R., Cruz, A. C. et al., The murine equivalent of the A181E TACI mutation associated with CVID severely impairs B-cell function. Blood 2009. 114: 2254-2262.
23. Siebenlist, U., Brown, K. and Claudio, E., Control of lymphocyte development by nuclear factor-kappaB. Nat. Rev. Immunol. 2005. 5: 435-445.
24. Dedeoglu, F., Horwitz, B., Chaudhuri, J., Alt, F. W. and Geha, R. S., Induction of activation-induced cytidine deaminase gene expression by IL-4 and CD40 ligation is dependent on STAT6 and NFkappaB. Int. Immunol. 2004. 16: 395-404.
25. Fried, A. J., Rauter, I., Dillon, S. R., Jabara, H. and Geha, R. S., Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency. J. Allergy Clin. Immunol. 2011. 128: 226-228.
26. Ku, C. L., von Bernuth, H., Picard, C., Zhang, S. Y., Chang, H. H., Yang, K., Chrabieh, M. et al., Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J. Exp. Med. 2007. 204: 2407-2422.
27. Vinuesa, C., Linterman, M. A., Goodnow, C. C. and Randall, K. L., T cells and follicular dendritic cells in germinal center B-cell formation and selection. Immunol. Rev. 2010. 237: 72-89.
28. Bossen, C., Cachero, T. G., Tardivel, A., Ingold, K., Willen, L., Dobles, M., Scott, M. L. 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: 1004-1012.
29. Xia, X. Z., Treanor, J., Senaldi, G., Khare, S. D., Boone, T., Kelley, M., Theill, L. E. et al., TACI is a TRAF-interacting receptor for TALL-1, a tumor necrosis factor family member involved in B-cell regulation. J. Exp. Med. 2000. 192: 137-143.
30. Ye, H. and Wu, H., Thermodynamic characterization of the interaction between TRAF2 and tumor necrosis factor receptor peptides by isothermal titration calorimetry. Proc. Natl. Acad. Sci. USA 2000. 97: 8961-8966.
31. Baud, V., Liu, Z. G., Bennett, B., Suzuki, N., Xia, Y. and Karin, M., Signaling by proinflammatory cytokines: oligomerization of TRAF2 and TRAF6 is sufficient for JNK and IKK activation and target gene induction via an amino-terminal effector domain. Genes. Dev. 1999. 13: 1297-1308.
32. Salzer, U., Bacchelli, C., Buckridge, S., Pan-Hammarström, Q., Jennings, S., Lougaris, V., Bergbreiter, A. 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: 1967-1976.
33. Magerus-Chatinet, A., Neven, B., Stolzenberg, M. C., Daussy, C., Arkwright, P., Lanzarotti, N., Schaffner, C. et al., Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. J. Clin. Invest. 2011. 121: 106-112.
34. Pan-Hammarström, Q., Dai, S., Zhao, Y., Dijk-Hard, v., Gatti, R. A., Borresen-Dale, A. L. and Hammarstrom, L., ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region. J. Immunol. 2003. 170: 3707-3716.
35. Xu, W., Santini, P. A., Matthews, A. J., Chiu, A., Plebani, A., He, B., Chen, K. et al., Viral double-stranded RNA triggers Ig class switching by activating upper respiratory mucosa B cells through an innate TLR3 pathway involving BAFF. J. Immunol. 2008. 181: 276-287.
36. Mohammadi, J., Liu, C., Aghamohammadi, A., Bergbreiter, A., Du, L., Lu, J., Rezaei, N. et al., Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency. J. Clin. Immunol. 2009. 29: 777-785.