Toll-like receptor 7 and 9 defects in common variable immunodeficiency

Journal of Allergy and Clinical Immunology

Volumn 124, Issue 2, 2009, Pages

  Yu, Joyce E ^a   Knight, Adina K ^a   Radigan, Lin ^b   Marron, Thomas U ^b   Zhang, Li ^b   Sanchez Ramón, Silvia ^b   Cunningham Rundles, Charlotte ^a,b  

^a MOUNT SINAI MEDICAL CENTER   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Common variable immunodeficiency; IFN ; isotype switch; memory B cell; plasmacytoid dendritic cell; Toll like receptor

Indexed keywords

BETA INTERFERON; CD27 ANTIGEN; CYTOSINE DEAMINASE; IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN G; INTERLEUKIN 12; INTERLEUKIN 6; MESSENGER RNA; TOLL LIKE RECEPTOR 7; TOLL LIKE RECEPTOR 9; TUMOR NECROSIS FACTOR ALPHA;

ADULT; AGED; ARTICLE; B LYMPHOCYTE; B LYMPHOCYTE ACTIVATION; B LYMPHOCYTE DIFFERENTIATION; CELL PROLIFERATION; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; CYTOKINE PRODUCTION; DENDRITIC CELL; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; IMMUNOGLOBULIN PRODUCTION; MEMORY CELL; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; UPREGULATION;

EID: 67651204410     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2009.05.019     Document Type: Article

References (56)

1. Grimbacher B., Hutloff A., Schlesier M., Glocker E., Warnatz K., Drager R., et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol 4 (2003) 261-268
2. Goldacker S., and Warnatz K. Tackling the heterogeneity of CVID. Curr Opin Allergy Clin Immunol 5 (2005) 504-509
3. van Zelm M.C., Reisli I., van der Burg M., Castano D., van Noesel C.J., van Tol M.J., et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med 354 (2006) 1901-1912
4. Salzer U., Chapel H.M., Webster A.D., Pan-Hammarstrom Q., Schmitt-Graeff A., Schlesier M., et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 37 (2005) 820-828
5. Castigli E., Wilson S.A., Garibyan L., Rachid R., Bonilla F., Schneider L., et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 37 (2005) 829-834
6. Zhang L., Radigan L., Salzer U., Behrens T.W., Grimbacher B., Diaz G., et al. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. J Allergy Clin Immunol 120 (2007) 1178-1185
7. Ko J., Radigan L., and Cunningham-Rundles C. Immune competence and switched memory B cells in common variable immunodeficiency. Clin Immunol 116 (2005) 37-41
8. Warnatz K., Denz A., Drager R., Braun M., Groth C., Wolff-Vorbeck G., et al. Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 99 (2002) 1544-1551
9. Wehr C., Kivioja T., Schmitt C., Ferry B., Witte T., Eren E., et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 111 (2008) 77-85
10. Sanchez-Ramon S., Radigan L., Yu J.E., Bard S., and Cunningham-Rundles C. Memory B cells in common variable immunodeficiency: clinical associations and sex differences. Clin Immunol 128 (2008) 314-321
11. Bernasconi N.L., Onai N., and Lanzavecchia A. A role for Toll-like receptors in acquired immunity: up-regulation of TLR9 by BCR triggering in naive B cells and constitutive expression in memory B cells. Blood 101 (2003) 4500-4504
12. Bourke E., Bosisio D., Golay J., Polentarutti N., and Mantovani A. The Toll-like receptor repertoire of human B lymphocytes: inducible and selective expression of TLR9 and TLR10 in normal and transformed cells. Blood 102 (2003) 956-963
13. Trinchieri G., and Sher A. Cooperation of Toll-like receptor signals in innate immune defence. Nat Rev Immunol 7 (2007) 179-190
14. Akira S., Uematsu S., and Takeuchi O. Pathogen recognition and innate immunity. Cell 124 (2006) 783-801
15. Krieg A.M., Yi A.K., Matson S., Waldschmidt T.J., Bishop G.A., Teasdale R., et al. CpG motifs in bacterial DNA trigger direct B-cell activation. Nature 374 (1995) 546-549
16. Gantner F., Hermann P., Nakashima K., Matsukawa S., Sakai K., and Bacon K.B. CD40-dependent and -independent activation of human tonsil B cells by CpG oligodeoxynucleotides. Eur J Immunol 33 (2003) 1576-1585
17. Hartmann G., Battiany J., Poeck H., Wagner M., Kerkmann M., Lubenow N., et al. Rational design of new CpG oligonucleotides that combine B cell activation with high IFN-alpha induction in plasmacytoid dendritic cells. Eur J Immunol 33 (2003) 1633-1641
18. He B., Qiao X., and Cerutti A. CpG DNA induces IgG class switch DNA recombination by activating human B cells through an innate pathway that requires TLR9 and cooperates with IL-10. J Immunol 173 (2004) 4479-4491
19. Poeck H., Wagner M., Battiany J., Rothenfusser S., Wellisch D., Hornung V., et al. Plasmacytoid dendritic cells, antigen, and CpG-C license human B cells for plasma cell differentiation and immunoglobulin production in the absence of T-cell help. Blood 103 (2004) 3058-3064
20. Ruprecht C.R., and Lanzavecchia A. Toll-like receptor stimulation as a third signal required for activation of human naive B cells. Eur J Immunol 36 (2006) 810-816
21. Jegerlehner A., Maurer P., Bessa J., Hinton H.J., Kopf M., and Bachmann M.F. TLR9 signaling in B cells determines class switch recombination to IgG2a. J Immunol 178 (2007) 2415-2420
22. Bekeredjian-Ding I., Doster A., Schiller M., Heyder P., Lorenz H.M., Schraven B., et al. TLR9-activating DNA up-regulates ZAP70 via sustained PKB induction in IgM+ B cells. J Immunol 181 (2008) 8267-8277
23. Traggiai E., Puzone R., and Lanzavecchia A. Antigen dependent and independent mechanisms that sustain serum antibody levels. Vaccine 21 suppl 2 (2003) S35-S37
24. Lau C.M., Broughton C., Tabor A.S., Akira S., Flavell R.A., Mamula M.J., et al. RNA-associated autoantigens activate B cells by combined B cell antigen receptor/Toll-like receptor 7 engagement. J Exp Med 202 (2005) 1171-1177
25. Hanten J.A., Vasilakos J.P., Riter C.L., Neys L., Lipson K.E., Alkan S.S., et al. Comparison of human B cell activation by TLR7 and TLR9 agonists. BMC Immunol 9 (2008) 39
26. Glaum M.C., Narula S., Song D., Zheng Y., Anderson A.L., Pletcher C.H., et al. Toll-like receptor 7-induced naive human B-cell differentiation and immunoglobulin production. J Allergy Clin Immunol 123 (2009) 224-230
27. Heil F., Ahmad-Nejad P., Hemmi H., Hochrein H., Ampenberger F., Gellert T., et al. The Toll-like receptor 7 (TLR7)-specific stimulus loxoribine uncovers a strong relationship within the TLR7, 8 and 9 subfamily. Eur J Immunol 33 (2003) 2987-2997
28. Bernasconi N.L., Traggiai E., and Lanzavecchia A. Maintenance of serological memory by polyclonal activation of human memory B cells. Science 298 (2002) 2199-2202
29. 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 176 (2006) 1978-1987
30. Geha R.S., Notarangelo L.D., Casanova J.L., Chapel H., Conley M.E., Fischer A., et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120 (2007) 776-794
31. Cognasse F., Hamzeh-Cognasse H., Lafarge S., Chavarin P., Pozzetto B., Richard Y., et al. Identification of two subpopulations of purified human blood B cells, CD27(-) CD23(+) and CD27(high) CD80(+), that strongly express cell surface Toll-like receptor 9 and secrete high levels of interleukin-6. Immunology 125 (2008) 430-437
32. Bekeredjian-Ding I.B., Wagner M., Hornung V., Giese T., Schnurr M., Endres S., et al. Plasmacytoid dendritic cells control TLR7 sensitivity of naive B cells via type I IFN. J Immunol 174 (2005) 4043-4050
33. Hasbold J., Gett A.V., Rush J.S., Deenick E., Avery D., Jun J., et al. Quantitative analysis of lymphocyte differentiation and proliferation in vitro using carboxyfluorescein diacetate succinimidyl ester. Immunol Cell Biol 77 (1999) 516-522
34. Litinskiy M.B., Nardelli B., Hilbert D.M., He B., Schaffer A., Casali P., et al. DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat Immunol 3 (2002) 822-829
35. Deering R.P., and Orange J.S. Development of a clinical assay to evaluate Toll-like receptor function. Clin Vaccine Immunol 13 (2006) 68-76
36. Matsumoto M., Kikkawa S., Kohase M., Miyake K., and Seya T. Establishment of a monoclonal antibody against human Toll-like receptor 3 that blocks double-stranded RNA-mediated signaling. Biochem Biophys Res Commun 293 (2002) 1364-1369
37. Alexopoulou L., Holt A.C., Medzhitov R., and Flavell R.A. Recognition of double-stranded RNA and activation of NF-kappaB by Toll-like receptor 3. Nature 413 (2001) 732-738
38. Hornung V., Rothenfusser S., Britsch S., Krug A., Jahrsdorfer B., Giese T., et al. Quantitative expression of toll-like receptor 1-10 mRNA in cellular subsets of human peripheral blood mononuclear cells and sensitivity to CpG oligodeoxynucleotides. J Immunol 168 (2002) 4531-4537
39. Gibson S.J., Lindh J.M., Riter T.R., Gleason R.M., Rogers L.M., Fuller A.E., et al. Plasmacytoid dendritic cells produce cytokines and mature in response to the TLR7 agonists, imiquimod and resiquimod. Cell Immunol 218 (2002) 74-86
40. Fitzgerald-Bocarsly P., Dai J., and Singh S. Plasmacytoid dendritic cells and type I IFN: 50 years of convergent history. Cytokine Growth Factor Rev 19 (2008) 3-19
41. Genestier L., Taillardet M., Mondiere P., Gheit H., Bella C., and Defrance T. TLR agonists selectively promote terminal plasma cell differentiation of B cell subsets specialized in thymus-independent responses. J Immunol 178 (2007) 7779-7786
42. Capolunghi F., Cascioli S., Giorda E., Rosado M.M., Plebani A., Auriti C., et al. CpG drives human transitional B cells to terminal differentiation and production of natural antibodies. J Immunol 180 (2008) 800-808
43. Richard K., Pierce S.K., and Song W. The agonists of TLR4 and 9 are sufficient to activate memory B cells to differentiate into plasma cells in vitro but not in vivo. J Immunol 181 (2008) 1746-1752
44. Pasare C., and Medzhitov R. Control of B-cell responses by Toll-like receptors. Nature 438 (2005) 364-368
45. Meyer-Bahlburg A., Khim S., and Rawlings D.J. B cell intrinsic TLR signals amplify but are not required for humoral immunity. J Exp Med 204 (2007) 3095-3101
46. Schnare M., Barton G.M., Holt A.C., Takeda K., Akira S., and Medzhitov R. Toll-like receptors control activation of adaptive immune responses. Nat Immunol 2 (2001) 947-950
47. Day N., Tangsinmankong N., Ochs H., Rucker R., Picard C., Casanova J.L., et al. Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses. J Pediatr 144 (2004) 524-526
48. Orange J.S., Levy O., and Geha R.S. Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunol Rev 203 (2005) 21-37
49. Casrouge A., Zhang S.Y., Eidenschenk C., Jouanguy E., Puel A., Yang K., et al. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 314 (2006) 308-312
50. Brinkmann M.M., Spooner E., Hoebe K., Beutler B., Ploegh H.L., and Kim Y.M. The interaction between the ER membrane protein UNC93B and TLR3, 7, and 9 is crucial for TLR signaling. J Cell Biol 177 (2007) 265-275
51. Zhang S.Y., Jouanguy E., Ugolini S., Smahi A., Elain G., Romero P., et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science 317 (2007) 1522-1527
52. Salt B.H., Niemela J.E., Pandey R., Hanson E.P., Deering R.P., Quinones R., et al. IKBKG (nuclear factor-kappaB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function. J Allergy Clin Immunol 121 (2008) 976-982
53. Pestka S., Krause C.D., and Walter M.R. Interferons, interferon-like cytokines, and their receptors. Immunol Rev 202 (2004) 8-32
54. Braun D., Caramalho I., and Demengeot J. IFN-alpha/beta enhances BCR-dependent B cell responses. Int Immunol 14 (2002) 411-419
55. Kadowaki N., and Liu Y.J. Natural type I interferon-producing cells as a link between innate and adaptive immunity. Hum Immunol 63 (2002) 1126-1132
56. Heer A.K., Shamshiev A., Donda A., Uematsu S., Akira S., Kopf M., et al. TLR signaling fine-tunes anti-influenza B cell responses without regulating effector T cell responses. J Immunol 178 (2007) 2182-2191