Flowcytometric phenotyping of common variable immunodeficiency

Cytometry Part B - Clinical Cytometry

Volumn 74, Issue 5, 2008, Pages 261-271

  Warnatz, Klaus ^a   Schlesier, Michael ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

B cell; BAFF R; CD19+; Classification; CVID; Flow cytometry; ICOS; T cell; TACI

Indexed keywords

ANTIMALARIAL AGENT; B CELL ACTIVATING FACTOR RECEPTOR; CAPTOPRIL; CARBAMAZEPINE; CD19 ANTIGEN; CD24 ANTIGEN; CD27 ANTIGEN; CD38 ANTIGEN; COMPLEMENT COMPONENT C3D RECEPTOR; FENCLOFENAC; GLUCOCORTICOID; GOLD SALT; HAPTOCORRIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; PENICILLAMINE; PHENYTOIN; SALAZOSULFAPYRIDINE; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR;

AGAMMAGLOBULINEMIA; ATAXIA TELANGIECTASIA; B LYMPHOCYTE; BLOOD ANALYSIS; CHROMOSOME ABERRATION; CHRONIC LYMPHATIC LEUKEMIA; COMMON VARIABLE IMMUNODEFICIENCY; CYTOMEGALOVIRUS INFECTION; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; EPSTEIN BARR VIRUS; FLOW CYTOMETRY; GENETIC DISORDER; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; HUMORAL IMMUNE DEFICIENCY; IMMUNE DEFICIENCY; LYMPHOCYTE SUBPOPULATION; LYMPHOPROLIFERATIVE DISEASE; MYOTONIC DYSTROPHY; NONHODGKIN LYMPHOMA; PHENOTYPE; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; REVIEW; RUBELLA; SCREENING TEST; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE ACTIVATION; T LYMPHOCYTE SUBPOPULATION; THYMOMA; TOXOPLASMA GONDII; TOXOPLASMOSIS; VIRUS INFECTION;

COMMON VARIABLE IMMUNODEFICIENCY; FLOW CYTOMETRY; HUMANS; IMMUNOPHENOTYPING; PLASMA CELLS; REFERENCE VALUES;

EID: 51749093932     PISSN: 15524949     EISSN: 15524957     Source Type: Journal    
DOI: 10.1002/cyto.b.20432     Document Type: Review

References (61)

1. Cooper MD, Faulk WP, Fudenberg HH, Good RA, Hitzig W, Kunkel H, Rosen FS, Seligmann M, Soothill J, Wedgwood RJ. Classification of primary immunodeficiencies. N Engl J Med 1973;288:966-967.
2. Durandy A, Revy P, Fischer A. Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes). Adv Immunol 2004;82:295-330.
3. Korthauer U, Graf D, Mages HW, Briere F, Padayachee M, Malcolm S, Ugazio AG, Notarangelo LD, Levinsky RJ, Kroczek RA. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature 1993;361:539-541.
4. Ferrari S, Giliani S, Insalaco A, Al Ghonaium A, Soresina AR, Loubser M, Avanzini MA, Marconi M, Badolato R, Ugazio AG, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo LD, Plebani A. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci USA 2001;98:12614-12619.
5. Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell 2000;102: 565-575.
6. Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, Yel L, Forveille M, Kavli B, Krokan HE, Ochs HD, Fischer A, Durandy A. Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol 2003;4:1023-1028.
7. Bruton OC. Agammaglobulinemia. Pediatrics 1952;9:722-728.
8. Conley ME, Broides A, Hernandez-Trujillo V, Howard V, Kanegane H, Miyawaki T, Shurtleff SA. Genetic analysis of patients with defects in early B-cell development. Immunol Rev 2005;203:216-234.
9. Ammann AJ, Hong R. Selective IgA deficiency: Presentation of 30 cases and a review of the literature. Medicine (Baltimore) 1971; 50:223-236.
10. Cooper MD, Lawton AR. Circulating B-cells in patients with immunodeficiency. Am J Pathol 1972;69:513-528.
11. Saiki O, Ralph P, Cunningham-Rundles C. Good RA. Three distinct stages of B-cell defects in common varied immunodeficiency. Proc Natl Acad Sci USA 1982;79:6008-6012.
12. Bryant A, Calver NC, Toubi E, Webster AD, Farrant J. Classification of patients with common variable immunodeficiency by B cell secretion of IgM and IgG in response to anti-IgM and interleukin-2. Clin Immunol Immunopathol 1990;56:239-248.
13. Fischer MB, Hauber I, Vogel E, Wolf HM, Mannhalter JW, Eibl MM. Defective interleukin-2 and interferon-γ gene expression in response to antigen in a subgroup of patients with common variable immunodeficiency. J Allergy Clin Immunol 1993;92:340-352.
14. Melchers F, ten Boekel E, Seidl T, Kong XC, Yamagami T, Onishi K, Shimizu T, Rolink AG, Andersson J. Repertoire selection by pre-B-cell receptors and B-cell receptors, and genetic control of B-cell development from immature to mature B cells. Immunol Rev 2000;175:33-46.
15. Rolink AG, Schaniel C, Andersson J, Melchers F. Selection events operating at various stages in B cell development. Curr Opin Immunol 2001;13:202-207.
16. Rolink AG, Andersson J, Melchers F. Characterization of immature B cells by a novel monoclonal antibody, by turnover and by mitogen reactivity. Eur J Immunol 1998;28:3738-3748.
17. Spanopoulou E, Roman CA, Corcoran LM, Schlissel MS, Silver DP, Nemazee D, Nussenzweig MC, Shinton SA, Hardy RR, Baltimore D. Functional immunoglobulin transgenes guide ordered B-cell differentiation in Rag-1-deficient mice. Genes Dev 1994;8:1030-1042.
18. Loder F, Mutschler B, Ray RJ, Paige CJ, Sideras P, Torres R, Lamers MC, Carsetti R. B cell development in the spleen takes place in discrete steps and is determined by the quality of B cell receptor-derived signals. J Exp Med 1999;190:75-89.
19. Allman D, Lindsley RC, DeMuth W, Rudd K, Shinton SA, Hardy RR. Resolution of three nonproliferative immature splenic B cell subsets reveals multiple selection points during peripheral B cell maturation. J Immunol 2001;167:6834-6840.
20. Mackay F, Schneider P, Rennert P, Browning J. BAFF AND APRIL: A tutorial on B cell survival. Annu Rev Immunol 2003;21:231-264.
21. Ng LG, Sutherland AP, Newton R, Qian F, Cachero TG, Scott ML, Thompson JS, Wheway J, Chtanova T, Groom J, Sutton IJ, Xin C, Tangye SG, Kalled SL, Mackay F, Mackay CR. 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;173:807-817.
22. Meyer-Bahlburg A, Andrews SF, Yu KO, Porcelli SA, Rawlings DJ. Characterization of a late transitional B cell population highly sensitive to BAFF-mediated homeostatic proliferation. J Exp Med 2008; 205:155-168.
23. Carsetti R, Rosado MM, Wardmann H. Peripheral development of B cells in mouse and man. Immunol Rev 2004;197:179-191.
24. Lopes-Carvalho T, Kearney JF. Development and selection of marginal zone B cells. Immunol Rev 2004;197:192-205.
25. Weller S, Braun MC, Tan BK, Rosenwald A, Cordier C, Conley ME, Plebani A, Kumararatne DS, Bonnet D, Tournilhac O, Tchernia G, Steiniger B, Staudt LM, Casanova JL, Reynaud CA, Weill JC. Human blood IgM "memory". B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire. Blood 2004;104:3647-3654.
26. Carsetti R, Rosado MM, Donnanno S, Guazzi V, Soresina A, Meini A, Plebani A, Aiuti F, Quinti I. The loss of IgM memory B cells correlates with clinical disease in common variable immunodeficiency. J Allergy Clin Immunol 2005;115:412-417.
27. Liu YJ, Johnson GD, Gordon J, MacLennan IC. Germinal centres in T-cell-dependent antibody responses. Immunol Today 1992;13:17-21.
28. MacLennan IC. Germinal centers. Annu Rev Immunol 1994;12:117-139.
29. Liu YJ, Banchereau J. Regulation of B-cell commitment to plasma cells or to memory B cells. Semin Immunol 1997;9:235-240.
30. Arpin C, Dechanet J, van Kooten C, Merville P, Grouard G, Briere F, Banchereau J, Liu YJ. Generation of memory B cells and plasma cells in vitro. Science 1995;268:720-722.
31. Liu YJ, Arpin C, de Bouteiller O, Guret C, Banchereau J, Martinez-Valdez H, Lebecque S. Sequential triggering of apoptosis, somatic mutation and isotype switch during germinal center development. Semin Immunol 1996;8:169-177.
32. Klein U, Rajewsky K, Kuppers R. Human immunoglobulin (Ig)M+IgD+ peripheral blood B cells expressing the CD27 cell surface antigen carry somatically mutated variable region genes: CD27 as a general marker for somatically mutated (memory) B cells. J Exp Med 1998;188:1679-1689.
33. MacLennan IC, Toellner KM, Cunningham AF, Serre K, Sze DM, Zuniga E, Cook MC, Vinuesa CG. Extrafollicular antibody responses. Immunol Rev 2003;194:8-18.
34. Bernasconi NL, Traggiai E, Lanzavecchia A. Maintenance of serological memory by polyclonal activation of human memory B cells. Science 2002;298:2199-2202.
35. Schlesier M, Warnatz K.Charakterisierung der B lymphozyten. In: Sack U, Tarnok A, Rothe G, editors. Zelluläre Diagnostik. Grundlagen, Methoden und Klinische Anwendungen der Durchflusszytometrie, 1st ed. Basel: Karger; 2007. pp 294-315.
36. Odendahl M, Jacobi A, Hansen A, Feist E, Hiepe F, Burmester GR, Lipsky PE, Radbruch A, Dorner T. Disturbed peripheral B lymphocyte homeostasis in systemic lupus erythematosus. J Immunol 2000;165:5970-5979.
37. Ferry BL, Jones J, Bateman EA, Woodham N, Warnatz K, Schlesier M, Misbah SA, Peter HH, Chapel HM. Measurement of peripheral B cell subpopulations in common variable immunodeficiency (CVID) using a whole blood method. Clin Exp Immunol 2005;140: 532-539.
38. Warnatz K, Denz A, Drager R, Braun M, Groth C, Wolff-Vorbeck G, Eibel H, Schlesier M, Peter HH. 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 2002;99:1544-1551.
39. Wehr C, Kivioja T, Schmitt C, Ferry B, Witte T, Eren E, Vlkova M, Hernandez M, Detkova D, Bos PR, Poerksen G, von BH, Baumann U, Goldacker S, Gutenberger S, Schlesier M, Bergeron-van der CF, Le GM, Debre P, Jacobs R, Jones J, Bateman E, Litzman J, van Hagen PM, Plebani A, Schmidt RE, Thon V, Quinti I, Espanol T, Webster AD, Chapel H, Vihinen M, Oksenhendler E, Peter HH, Warnatz K. The EUROclass trial: Defining subgroups in common variable immunodeficiency. Blood 2008;111:77-85.
40. Piqueras B, Lavenu-Bombled C, Galicier L, Bergeron-van der Cruyssen F, Mouthon L, Chevret S, Debre P, Schmitt C, Oksenhendler E. Common: variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects. J Clin Immunol 2003;23: 385-400.
41. Grimbacher B, Hutloff A, Schlesier M, Glocker E, Warnatz K, Drager R, Eibel H, Fischer B, Schaffer AA, Mages HW, Kroczek RA, Peter HH. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol 2003;4:261-268.
42. Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum. Neurology 2003;60:657-664.
43. Horn J, Thon V, Bartonkova D, Salzer U, Warnatz K, Schlesier M, Peter HH, Grimbacher B. Anti-IgA antibodies in common variable immunodeficiency (CVID): Diagnostic workup and therapeutic strategy. Clin Immunol 2007;122:156-162.
44. Fischer MB, Wolf HM, Eggenbauer H, Thon V, Vogel E, Lokaj J, Litzman J, Mannhalter JW, Eibl MM. The costimulatory signal CD28 is fully functional but cannot correct the impaired antigen response in T cells of patients with common variable immunodeficiency. Clin Exp Immonol 1994;95:209-214.
45. Aukrust P, Muller F, Froland SS. Elevated serum levels of interleukin-4 and interleukin-6 in patients with common variable immunodeficiency (CVI) are associated with chronic immune activation and low numbers of CD4+ lymphocytes. Clin Immunol Immunopathol 1994;70:217-224.
46. North ME, Webster AD, Farrant J. Defects in proliferative responses of T cells from patients with common variable immunodeficiency on direct activation of protein kinase C. Clin Exp Immunol 1991;85:198-201.
47. Aukrust P, Lien E, Kristoffersen AK, Muller F, Haug CJ, Espevik T, Froland SS. Persistent activation of the tumor necrosis factor system in a subgroup of patients with common variable immunodeficiency-Possible immunologic and clinical consequences. Blood 1996;87: 674-681.
48. Giovannetti A, Pierdominici M, Mazzetta F, Marziali M, Renzi C, Mileo AM, De FM, Mora B, Esposito A, Carello R, Pizzuti A, Paggi MG, Paganelli R, Malorni W, Aiuti F. Unravelling the complexity of T cell abnormalities in common variable immunodeficiency. J Immunol 2007;178:3932-3943.
49. Fevang B, Yndestad A, Sandberg WJ, Holm AM, Muller F, Aukrust P, Froland SS. Low numbers of regulatory T cells in common variable immunodeficiency: Association with chronic inflammation in vivo. Clin Exp Immunol 2007;147:521-525.
50. Bossaller L, Burger J, Draeger R, Grimbacher B, Knoth R, Plebani A, Durandy A, Baumann U, Schlesier M, Welcher AA, Peter HH, Warnatz K. ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells. J Immunol 2006;177:4927-4932.
51. Hutloff A, Dittrich AM, Beier KC, Eljaschewitsch B, Kraft R, Anagnostopoulos I, Kroczek RA. ICOS is an inducible T-cell co-stimulator structurally and functionally related to CD28. Nature 1999; 397:263-266.
52. Tafuri A, Shahinian A, Bladt F, Yoshinaga SK, Jordana M, Wakeham A, Boucher LM, Bouchard D, Chan VS, Duncan G, Odermatt B, Ho A, Itie A, Horan T, Whoriskey JS, Pawson T, Penninger JM, Ohashi PS, Mak TW. ICOS is essential for effective T-helper-cell responses. Nature 2001;409:105-109.
53. Mak TW, Shahinian A, Yoshinaga SK, Wakeham A, Boucher LM, Pintilie M, Duncan G, Gajewska BU, Gronski M, Eriksson U, Odermatt B, Ho A, Bouchard D, Whorisky JS, Jordana M, Ohashi PS, Pawson T, Bladt F, Tafuri A. Costimulation through the inducible costimulator ligand is essential for both T helper and B cell functions in T cell-dependent B cell responses. Nat Immunol 2003;4: 765-772.
54. Warnatz K, Bossaller L, Salzer U, Skrabl-Baumgartner A, Schwinger W, van der BM, van Dongen JJ, Orlowska-Volk M, Knoth R, Durandy A, Draeger R, Schlesier M, Peter HH, Grimbacher B. Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. Blood 2006;107:3045-3052.
55. von Bulow GU, Bram RJ. NF-AT activation induced by a CAML-interacting member of the tumor necrosis factor receptor superfamily. Science 1997;278:138-141.
56. Salzer U, Chapel HM, Webster AD, Pan-Hammarstrom Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schaffer AA, Hammarstrom L, Grimbacher B. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 2005;37:820-828.
57. Pan-Hammarstrom Q, Salzer U, Du L, Bjorkander J, Cunningham-Rundles C, Nelson DL, Bacchelli C, Gaspar HB, Offer S, Behrens TW, Grimbacher B, Hammarstrom L. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 2007;39:429-430.
58. Sato S, Steeber DA, Tedder TF. The CD19 signal transduction molecule is a response regulator of B-lymphocyte differentiation. Proc Natl Acad Sci USA 1995;92:11558-11562.
59. van Zelm MC, Reisli I, van der BM, Castano D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patino, PJ, van Dongen JJ, Franco JL. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med 2006;354:1901-1912.
60. Kanegane H, Agematsu K, Futatani T, Sira MM, Suga K, Sekiguchi T, van Zelm MC, Miyawaki T. Novel mutations in a Japanese patient with CD19 deficiency. Genes Immun 2007;8:663-670.
61. Thompson JS, Bixler SA, Qian F, Vora K, Scott ML, Cachero TG, Hession C, Schneider P, Sizing ID, Mullen C, Strauch K, Zafari M, Benjamin CD, Tschopp J, Browning JL, Ambrose C. BAFF-R, a newly identified TNF receptor that specifically interacts with BAFf. Science 2001;293:2108-2111.