The establishment of early B cell tolerance in humans: Lessons from primary immunodeficiency diseases

Annals of the New York Academy of Sciences

Volumn 1246, Issue 1, 2011, Pages 1-10

  Meffre, Eric ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

B cell receptor; B cell tolerance; Receptor editing; Toll like receptors

Indexed keywords

B CELL ACTIVATING FACTOR; B LYMPHOCYTE RECEPTOR; CD40 LIGAND; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; TOLL LIKE RECEPTOR;

ALLELE; ARTICLE; AUTOIMMUNE DISEASE; B LYMPHOCYTE; BONE MARROW; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; IMMUNE DEFICIENCY; IMMUNOLOGICAL TOLERANCE; IMMUNOREGULATION; INSULIN DEPENDENT DIABETES MELLITUS; PTPN22 GENE; REGULATORY T LYMPHOCYTE; RHEUMATOID ARTHRITIS; SIGNAL TRANSDUCTION; SYSTEMIC LUPUS ERYTHEMATOSUS;

EID: 84855332531     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2011.06347.x     Document Type: Article

References (71)

1. Leslie, D., P. Lipsky & A.L. Notkins. 2001. Autoantibodies as predictors of disease. J. Clin. Invest. 108: 1417-1422.
2. Edwards, J.C.W. et al. 2004. Efficacy of B cell-targeted therapy with Rituximab in patients with rheumatoid arthritis. N. Engl. J. Med. 350: 2572-2581.
3. Hauser, S.L. et al. 2008. B-cell depletion with rituximab in relapsing-remitting multiple sclerosis. N. Engl. J. Med. 358: 676-688.
4. Pescovitz, M.D. et al. 2009. Rituximab, B-lymphocyte depletion, and preservation of beta-cell function. N. Engl. J. Med. 361: 2143-2152.
5. Wardemann, H., et al. 2003. Predominant autoantibody production by early human B cell precursors. Science 301: 1374-1377.
6. Meffre, E. et al. 2004. Surrogate light chain expressing human peripheral B cells produce self-reactive antibodies. J. Exp. Med. 199: 145-150.
7. Tiller, T. et al. 2008. Efficient generation of monoclonal antibodies from single human B cells by single cell RT-PCR and expression vector cloning. J. Immunol. Methods 329: 112-124.
8. Meffre, E. & H. Wardemann. 2008. B-cell tolerance checkpoints in health and autoimmunity. Curr. Opin. Immunol. 20: 632-638.
9. van Zelm, M.C., T. Szczepanski, M. van der Burg & J.J. van Dongen. 2007. Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. J. Exp. Med. 204: 645-655.
10. Menard, L. et al. 2011. The PTPN22 allele encoding an R620W variant interferes with the removal of developing autoreactive B cells in humans. J. Clin. Invest. 121: 3635-3644.
11. Goodnow, C.C. 1996. Balancing immunity and tolerance: deleting and tuning lymphocyte repertoires. Proc. Natl. Acad. Sci. USA 93: 2264-2271.
12. Ng, Y.-S., H. Wardemann, J. Chelnis, et al. 2004. Bruton's tyrosine kinase (Btk) is essential for human B cell tolerance. J. Exp. Med. 200: 927-934.
13. Grimaldi, C.M., R. Hicks & B. Diamond. 2005. B cell selection and susceptibility to autoimmunity. J. Immunol. 174: 1775-1781.
14. de Weers, M. et al. 1994. B-cell antigen receptor stimulation activates the human Bruton's tyrosine kinase, which is deficient in X-linked agammaglobulinemia. J. Biol. Chem. 269: 23857-23860.
15. Kurosaki, T. & S. Tsukada. 2000. BLNK: connecting Syk and Btk to calcium signals. Immunity 12: 1-5.
16. Begovich, A.B. et al. 2004. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am. J. Hum. Genet. 75: 330-337.
17. Kyogoku, C. et al. 2004. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am. J. Hum. Genet. 75: 504-507.
18. Bottini, N. et al. 2004. A functional variant of lymphoid tyrosine phosphatase is associated with type 1 diabetes. Nat. Genet. 36: 337-338.
19. Michou, L. et al. 2007. Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene. Proc. Natl. Acad. Sci. USA 104: 1649-1654.
20. Vang, T. et al. 2005. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat. Genet. 37: 1317-1319.
21. Arechiga, A.F. et al. 2009. Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. J. Immunol. 182: 3343-3347.
22. Marshak-Rothstein, A. 2006. Toll-like receptors in systemic autoimmune disease. Nat. Rev. Immunol. 6: 823-835.
23. Akira, S. & K. Takeda. 2004. Toll-like receptor signaling. Nat. Rev. Immunol. 4: 499-511.
24. Beutler, B. 2004. Inferences, questions and possibilities in Toll-like receptor signalling. Nature 430: 257-263.
25. He, B. et al. 2010. The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nat. Immunol. 11: 836-845.
26. Brinkmann, M.M. et al. 2007. The interaction between the ER membrane protein UNC93B and TLR3, 7, and 9 is crucial for TLR signaling. J. Cell. Biol. 177: 265-275.
27. Casrouge, A. et al. 2006. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 314: 308-312.
28. Kim, Y.M., M.M. Brinkmann, M.E. Paquet & H.L. Ploegh. 2008. UNC93B1 delivers nucleotide-sensing toll-like receptors to endolysosomes. Nature 452: 234-238.
29. Tabeta, K. et al. 2006. The Unc93b1 mutation 3d disrupts exogenous antigen presentation and signaling via Toll-like receptors 3, 7 and 9. Nat. Immunol. 7: 156-164.
30. Isnardi, I. et al. 2008. IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans. Immunity 29: 746-757.
31. Kim, Y.M., M.M. Brinkmann & H.L. Ploegh. 2007. TLRs bent into shape. Nat. Immunol. 8: 675-677.
32. Gulino, A.V. & L.D. Notarangelo. 2003. Hyper IgM syndromes. Curr. Opin. Rheumatol. 15: 422-429.
33. Lee, W.I. et al. 2005. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood 105: 1881-1890.
34. Muramatsu, M. et al. 2000. Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme [see comments]. Cell 102: 553-563.
35. Revy, P. et al. 2000. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2) [see comments]. Cell 102: 565-575.
36. Quartier, P. et al. 2004. Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to activation-induced cytidine deaminase deficiency. Clin. Immunol. 110: 22-29.
37. Durandy, A., S. Peron & A. Fischer 2006. Hyper-IgM syndromes. Curr. Opin. Rheumatol. 18: 369-376.
38. Meyers, G. et al. 2011. Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans. Proc. Natl. Acad. Sci. USA 108: 11554-11559.
39. Nemazee, D. et al. 2000. B-cell-receptor-dependent positive and negative selection in immature B cells. Curr. Top. Microbiol. Immunol. 245: 57-71.
40. Mao, C. et al. 2004. T cell-independent somatic hypermutation in murine B cells with an immature phenotype. Immunity 20: 133-144.
41. Han, J.H. et al. 2007. Class switch recombination and somatic hypermutation in early mouse B cells are mediated by B cell and Toll-like receptors. Immunity 27: 64-75.
42. Ueda, Y., D. Liao, K. Yang, et al 2007. T-independent activation-induced cytidine deaminase expression, class-switch recombination, and antibody production by immature/transitional 1 B cells. J. Immunol. 178: 3593-3601.
43. Kuraoka, M. et al. 2009. Activation-induced cytidine deaminase expression and activity in the absence of germinal centers: insights into hyper-IgM syndrome. J. Immunol. 183: 3237-3248.
44. Kuraoka, M. et al. 2011. Activation-induced cytidine deaminase mediates central tolerance in B cells. Proc. Natl. Acad. Sci. USA 108: 11560-11565.
45. Zaheen, A. et al. 2009. AID constrains germinal center size by rendering B cells susceptible to apoptosis. Blood 114: 547-554.
46. Goodhardt, M. et al. 1993. Methylation status of immunoglobulin kappa gene segments correlates with their recombination potential. Eur. J. Immunol. 23: 1789-1795.
47. Blanco-Betancourt, C.E. et al. 2004. Defective B-cell-negative selection and terminal differentiation in the ICF syndrome. Blood 103: 2683-2690.
48. Fagarasan, S. et al. 2002. Critical roles of activation-induced cytidine deaminase in the homeostasis of gut flora. Science 298: 1424-1427.
49. Halverson, R., R.M. Torres & R. Pelanda. 2004. Receptor editing is the main mechanism of B cell tolerance toward membrane antigens. Nat. Immunol. 6: 645-650.
50. Radic, M.Z. & M. Weigert. 1995. Origins of anti-DNA antibodies and their implications for B-cell tolerance. Ann. N.Y. Acad. Sci. 764: 384-396.
51. Verkoczy, L. et al. 2005. A role for nuclear factor kappa B/rel transcription factors in the regulation of the recombinase activator genes. Immunity 22: 519-531.
52. Meffre, E. et al. 2001. Immunoglobulin heavy chain expression shapes the B cell receptor repertoire in human B cell development. J. Clin. Invest. 108: 879-886.
53. Warnatz, K. et al. 2002. 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: 1544-1551.
54. Isnardi, I. et al. 2010. Complement receptor 2/CD21- human naive B cells contain mostly autoreactive unresponsive clones. Blood 115: 5026-5036.
55. Romberg, N., Y.S. Ng, C. Cunningham-Rundles & E. Meffre. 2011. Common variable immunodeficiency patients with increased CD21-/lo B cells suffer from altered receptor editing and defective central B cell tolerance. In press.
56. Samuels, J., Y.-S. Ng, C. Coupillaud, et al 2005. Impaired early B cell tolerance in patients with rheumatoid arthritis. J. Exp. Med. 201: 1659-1667.
57. Menard, L., J. Samuels, Y.S. Ng & E. Meffre. 2011. Inflammation-independent defective early B cell tolerance checkpoints in rheumatoid arthritis. Arthritis Rheum. 63: 1237-1245.
58. Bensimon, C., P. Chastagner & M. Zouali. 1994. Human lupus anti-DNA autoantibodies undergo essentially primary V kappa gene rearrangements. EMBO J. 13: 2951-2962.
59. Suzuki, N., T. Harada, S. Mihara & T. Sakane. 1996. Characterization of a germline Vk gene encoding cationic anti-DNA antibody and role of receptor editing for development of the autoantibody in patients with systemic lupus erythematosus. J. Clin. Invest. 98: 1843-1850.
60. Dorner, T., S.J. Foster, N.L. Farner & P.E. Lipsky. 1998. Immunoglobulin kappa chain receptor editing in systemic lupus erythematosus. J. Clin. Invest. 102: 688-694.
61. Wardemann, H., J. Hammersen & M.C. Nussenzweig. 2004. Human autoantibody silencing by immunoglobulin light chains. J. Exp. Med. 200: 191-199.
62. Rathmell, J.C. et al. 1995. CD95 (Fas)-dependent elimination of self-reactive B cells upon interaction with CD4+ T cells. Nature 376: 181-184.
63. Hervé, M. et al. 2007. CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance. J. Exp. Med. 204: 1583-1593.
64. Brunkow, M.E. et al. 2001. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat. Genet. 27: 68-73.
65. Wildin, R.S. et al. 2001. X-linked neonatal diabetes mellitus, enteropathy, and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat. Genet. 27: 18-20.
66. Bennett, C.L. et al. 2001. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat. Genet. 27: 20-21.
67. Schiemann, B. et al. 2001. An essential role for BAFF in the normal development of B cells through a BCMA-independent pathway. Science 293: 2111-2114.
68. Mackay, F. et al. 1999. Mice transgenic for BAFF develop lymphocytic disorders along with autoimmune manifestations. J. Exp. Med. 190: 1697-1710.
69. Lesley, R. et al. 2004. Reduced competitiveness of autoantigen-engaged B cells due to increased dependence on BAFF. Immunity 20: 441-453.
70. Thien, M. et al. 2004. Excess BAFF rescues self-reactive B cells from peripheral deletion and allows them to enter forbidden follicular and marginal zone niches. Immunity 20: 785-798.
71. KIP1. Proc. Natl. Acad. Sci. USA 101: 17789-17794.