Dissection of B-cell development to unravel defects in patients with a primary antibody deficiency

Advances in Experimental Medicine and Biology

Volumn 697, Issue , 2011, Pages 183-196

  Van Der Burg, Mirjam ^a   Van Zelm, Menno C ^a   Driessen, Gertjan J A ^a   Van Dongen, Jacques J M ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

LYMPHOCYTE ANTIGEN RECEPTOR;

ARTICLE; B LYMPHOCYTE DIFFERENTIATION; BONE MARROW CELL; CELL COMPARTMENTALIZATION; CELL MATURATION; COMMON VARIABLE IMMUNODEFICIENCY; GENE EXPRESSION REGULATION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; HUMAN; HUMORAL IMMUNE DEFICIENCY; IMMUNOGLOBULIN CLASS SWITCH RECOMBINATION DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; IMMUNOGLOBULIN HEAVY CHAIN GENE; IMMUNOGLOBULIN LIGHT CHAIN GENE; LYMPHOCYTE PROLIFERATION; LYMPHOCYTE SUBPOPULATION; LYMPHOID ORGAN; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; B LYMPHOCYTE; CELL DIFFERENTIATION; CHILD; CYTOLOGY; IMMUNE DEFICIENCY; IMMUNOLOGY; LYMPHOID TISSUE; REVIEW;

B-LYMPHOCYTES; CELL DIFFERENTIATION; CHILD; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LYMPHOID TISSUE;

EID: 79952276277     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-7185-2_13     Document Type: Article

References (41)

1. van Zelm MC, van der Burg M, de Ridder D, Barendregt BH, de Haas EF, Reinders MJ et al. Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression. J Immunol. 2005;175(9):5912-22.
2. Hendriks RW, Middendorp S. The pre-BCR checkpoint as a cell-autonomous proliferation switch. Trends Immunol. 2004;25(5):249-56.
3. Carter RH, Fearon DT. CD19: lowering the threshold for antigen receptor stimulation of B lymphocytes. Science. 1992;256(5053):105-7.
4. van Noesel CJ, Lankester AC, van Lier RA. Dual antigen recognition by B cells. Immunol Today. 1993;14(1):8-11.
5. Fearon DT, Carroll MC. Regulation of B lymphocyte responses to foreign and self-antigens by the CD19/CD21 complex. Annu Rev Immunol. 2000;18:393-422.
6. Honjo T, Kinoshita K, Muramatsu M. Molecular mechanism of class switch recombination: linkage with somatic hypermutation. Annu Rev Immunol. 2002;20:165-96.
7. Odegard VH, Schatz DG. Targeting of somatic hypermutation. Nat Rev Immunol. 2006;6(8):573-83.
8. Cerutti A. The regulation of IgA class switching. Nat Rev Immunol. 2008;8(6):421-34.
9. Weill JC, Weller S, Reynaud CA. Human marginal zone B cells. Annu Rev Immunol. 2009;27:267-85.
10. Mond JJ, Vos Q, Lees A, Snapper CM. T cell independent antigens. Curr Opin Immunol. 1995;7(3):349-54.
11. Peng SL. Signaling in B cells via Toll-like receptors. Curr Opin Immunol. 2005;17(3): 230-6.
12. Weller S, Braun MC, Tan BK, Rosenwald A, Cordier C, Conley ME et al. Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire. Blood. 2004;104(12):3647-54.
13. Comans-Bitter WM, de Groot R, van den Beemd R, Neijens HJ, Hop WC, Groeneveld K et al. Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations. J Pediatr. 1997;130(3):388-93.
14. Pan-Hammarstrom Q, Hammarstrom L. Antibody deficiency diseases. Eur J Immunol. 2008;38(2):327-33.
15. Peron S, Metin A, Gardes P, Alyanakian MA, Sheridan E, Kratz CP et al. Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. J Exp Med. 2008;205(11):2465-72.
16. Warnatz K, Salzer U, Rizzi M, Fischer B, Gutenberger S, Bohm J et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc Natl Acad Sci U S A. 2009;106(33):13945-50.
17. Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S et al. Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol. 2009;27:199-227.
18. Noordzij JG, de Bruin-Versteeg S, Comans-Bitter WM, Hartwig NG, Hendriks RW, de Groot R et al. Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. Pediatr Res. 2002;51(2): 159-68.
19. van Zelm MC, Geertsema C, Nieuwenhuis N, de Ridder D, Conley ME, Schiff C et al. Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. Am J Hum Genet. 2008;82(2):320-32.
20. Minegishi Y, Rohrer J, Coustan-Smith E, Lederman HM, Pappu R, Campana D et al. An essential role for BLNK in human B cell development. Science. 1999;286(5446):1954-7.
21. Kanegane H, Agematsu K, Futatani T, Sira MM, Suga K, Sekiguchi T et al. Novel mutations in a Japanese patient with CD19 deficiency. Genes Immun. 2007;8(8):663-70.
22. van Zelm MC, Reisli I, van der Burg M, Casta'o D, van Noesel CJM, van Tol MJD et al. An Antibody-Deficiency Syndrome Due to Mutations in the CD19 Gene. N Engl J Med. 2006;354(18):1901-12.
23. van Zelm MC, Smet J, Adams B, Mascart F, Schandene L, Janssen F et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest 2010;120(4):1265-74.
24. Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG et al. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science. 1993;259(5097):990-3.
25. Notarangelo LD, Duse M, Ugazio AG. Immunodeficiency with hyper-IgM (HIM). Immunodefic Rev. 1992;3(2):101-21.
26. Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci U S A. 2001;98(22):12614-19.
27. Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell. 2000;102(5):565-75.
28. Weller S, Faili A, Garcia C, Braun MC, Le Deist FF, de Saint Basile GG et al. CD40- CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans. Proc Natl Acad Sci U S A. 2001;98(3):1166-70.
29. He B, Xu W, Santini PA, Polydorides AD, Chiu A, Estrella J 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(6):812-26.
30. Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005;37(8): 829-34.
31. 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. 2003;4(3):261-8.
32. Salzer U, Chapel HM, Webster AD, 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. 2005;37(8):820-8.
33. Zhang L, Radigan L, Salzer U, Behrens TW, 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. 2007;120(5):1178-85.
34. Chapel H, Lucas M, Lee M, Bjorkander J, Webster D, Grimbacher B et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood. 2008;112(2):277-86.
35. Cunningham-Rundles C. Autoimmune manifestations in common variable immunodeficiency. J Clin Immunol. 2008;28(Suppl 1):S42-S45.
36. Lopes-da-Silva S, Rizzo LV. Autoimmunity in common variable immunodeficiency. J Clin Immunol. 2008;28(Suppl 1):S46-S55.
37. Chua I, Quinti I, Grimbacher B. Lymphoma in common variable immunodeficiency: interplay between immune dysregulation, infection and genetics. Curr Opin Hematol. 2008;15(4): 368-74.
38. Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood. 2008;111(1):77-85.
39. Andersen P, Permin H, Andersen V, Schejbel L, Garred P, Svejgaard A et al. Deficiency of somatic hypermutation of the antibody light chain is associated with increased frequency of severe respiratory tract infection in common variable immunodeficiency. Blood. 2005;105(2):511-17.
40. van Zelm MC, Szczepanski T, van der Burg M, van Dongen JJ. Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. J Exp Med. 2007;204(3):645-55.
41. Driessen GJA, van Zelm MC, Van Dongen JJM, Hartwig NG, van Hagen PM, van der Burg M. New phenotype in patients with common variable immunodeficiency characterized by increased proliferation of naive mature B-cells. Eur J Immunol. 2009;39(S1):S1-6.