Common variable immune deficiency: Reviews, continued puzzles, and a new registry

Immunologic Research

Volumn 38, Issue 1-3, 2007, Pages 78-86

  Cunningham Rundles, Charlotte ^a,b   Knight, Adina Kay ^a,b  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b Box 1089 ^*  (United States)

Author keywords

Autoimmunity; B cells; Common variable immune deficiency; Genetics; Immune deficiency

Indexed keywords

CLINICAL FEATURE; COMMON VARIABLE IMMUNODEFICIENCY; CONFERENCE PAPER; GENETIC DISORDER; HUMAN; HYPOGAMMAGLOBULINEMIA; IMMUNE DEFICIENCY; INHERITANCE; LABORATORY TEST; PHENOTYPE; PRIORITY JOURNAL;

EID: 35348924233     PISSN: 0257277X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12026-007-0024-0     Document Type: Conference Paper

References (82)

1. Cunningham-Rundles C. Common variable immunodeficiency. Curr Allergy Asthma Rep 2001;1:421-9.
2. Janeway CA, Apt L, Gitlin D. Agammaglobulinemia. Trans Assoc Am Physicians 1953;66:200-2.
3. Sanford JP. Absence of serum gamma globulins in an adult. N Engl J Med 1954;250:1027-9.
4. Hermans PE, Diaz-Buxo JA, Stobo JD. Idiopathic late-onset immunoglobulin deficiency. Clinical observations in 50 patients. Am J Med 1976;61:221-37.
5. Cunningham-Rundles C. Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. J Clin Immunol 1989;9:22-33.
6. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999;92:34-48.
7. Hermaszewski RA, Webster AD. Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications. Q J Med 1993;86:31-42.
8. Van der Hilst JC, Smits BW, van der Meer JW. Hypogammaglobulinaemia: cumulative experience in 49 patients in a tertiary care institution. Neth J Med 2002;60:140-7.
9. Sweinberg SK, Wodell RA, Grodofsky MP, Greene JM, Conley ME. Retrospective analysis of the incidence of pulmonary disease in hypogammaglobulinemia. J Allergy Clin Immunol 1991;88:96-104.
10. Kainulainen L, Nikoskelainen J, Vuorinen T, Tevola K, Liippo K, Ruuskanen O. Viruses and bacteria in bronchial samples from patients with primary hypogammaglobulinemia. Am J Respir Crit Care Med 1999;159:1199-204.
11. Kainulainen L, Varpula M, Liippo K, Svedstrom E, Nikoskelainen J, Ruuskanen O. Pulmonary abnormalities in patients with primary hypogammaglobulinemia. J Allergy Clin Immunol 1999;104:1031-6.
12. Hammarstrom L, Vorechovsky I, Webster D. Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID). Clin Exp Immunol 2000;120:225-31.
13. Kainulainen L, Nikoskelainen J, Ruuskanen O. Diagnostic findings in 95 Finnish patients with common variable immunodeficiency. J Clin Immunol 2001;21:145-9.
14. Spickett GP. Current perspectives on common variable immunodeficiency (CVID). Clin Exp Allergy 2001;31:536-42.
15. Sneller MC. Common variable immunodeficiency. Am J Med Sci 2001;321:42-8.
16. Buckley RH. Pulmonary complications of primary immunodeficiencies. Paediatr Respir Rev 2004;5(Suppl A):S225-33.
17. Thickett KM, Kumararatne DS, Banerjee AK, Dudley R, Stableforth DE. Common variable immune deficiency: respiratory manifestations, pulmonary function and high-resolution CT scan findings. Q J Med 2002;95:655-62.
18. Busse PJ, Razvi S, Cunningham-Rundles C. Efficacy of intravenous immunoglobulin in the prevention of pneumonia in patients with common variable immunodeficiency. J Allergy Clin Immunol 2002;109:1001-4.
19. Bates CA, Ellison MC, Lynch DA, Cool CD, Brown KK, Routes JM. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J Allergy Clin Immunol 2004;114:415-21.
20. Cunningham-Rundles C. Hematologic complications of primary immune deficiencies. Blood Rev 2002;16:61-4.
21. Etzioni A. Immune deficiency and autoimmunity. Autoimmun Rev 2003;2:364-9.
22. Michel M, Chanet V, Galicier L, Ruivard M, Levy Y, Hermine O, Oksenhendler E, Schaeffer A, Bierling P, Godeau B. Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine (Baltimore) 2004;83:254-63.
23. Wang J, Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun 2005;25:57-62.
24. Fasano MB, Sullivan KE, Sarpong SB, Wood RA, Jones SM, Johns CJ, Lederman HM, Bykowsky MJ, Greene JM, Winkelstein JA. Sarcoidosis and common variable immunodeficiency. Report of 8 cases and review of the literature. Medicine (Baltimore) 1996;75:251-61.
25. Mechanic LJ, Dikman S, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Ann Intern Med 1997;127:613-7.
26. Morimoto Y, Routes JM. Granulomatous disease in common variable immunodeficiency. Curr Allergy Asthma Rep 2005;5:370-5.
27. Wheat WH, Cool CD, Morimoto Y, Rai PR, Kirkpatrick CH, Lindenbaum BA, Bates CA, Ellison MC, Serls AE, Brown KK, Routes JM. Possible role of human herpesvirus 8 in the lymphoproliferative disorders in common variable immunodeficiency. J Exp Med 2005;202:479-84.
28. Sander CA, Medeiros LJ, Weiss LM, Yano T, Sneller MC, Jaffe ES. Lymphoproliferative lesions in patients with common variable immunodeficiency syndrome. Am J Surg Pathol 1992;16:1170-82.
29. Kinlen LJ, Webster AD, Bird AG, Haile R, Peto J, Soothill JF, Thompson RA. Prospective study of cancer in patients with hypogammaglobulinaemia. Lancet 1985;1:263-6.
30. Cunningham-Rundles C, Cooper DL, Duffy TP, Strauchen J. Lymphomas of mucosal-associated lymphoid tissue in common variable immunodeficiency. Am J Hematol 2002;69:171-8.
31. Aghamohammadi A, Parvaneh N, Tirgari F, Mahjoob F, Movahedi M, Gharagozlou M, Mansouri M, Kouhi A, Rezaei N, Webster D. Lymphoma of mucosa-associated lymphoid tissue in common variable immunodeficiency. Leuk Lymphoma 2006;47:343-6.
32. Mellemkjaer L, Hammarstrom L, Andersen V, Yuen J, Heilmann C, Barington T, Bjorkander J, Olsen JH. Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study. Clin Exp Immunol 2002;130:495-500.
33. 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;79:6008-12.
34. Cunningham-Rundles S, Cunningham-Rundles C, Ma DI, Siegal FP, Gupta S, Smithwick EM, Kosloff C, Good RA. Impaired proliferative response to B-lymphocyte activators in common variable immunodeficiency. Scand J Immunol 1982;15:279-86.
35. Pollack S, Reisner Y, Koziner B, Good RA, Hoffman MK. B-cell function in common variable immunodeficiency: suppression of in vitro anti-sheep erythrocytes antibody production by T cells and monocytes. Immunology 1985;54:89-96.
36. 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;56:239-48.
37. Eisenstein EM, Chua K, Strober W. B cell differentiation defects in common variable immunodeficiency are ameliorated after stimulation with anti-CD40 antibody and IL-10. J Immunol 1994;152:5957-68.
38. Branda RF, Moore AL, Hong R, McCormack JJ, Zon G, Cunningham-Rundles C. B-cell proliferation and differentiation in common variable immunodeficiency patients produced by an antisense oligomer to the rev gene of HIV-1. Clin Immunol Immunopathol 1996;79:115-21.
39. 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;99:1544-51.
40. Piqueras B, Lavenu-Bombled C, Galicier L, Cruyssen F B-VD, Mouthon L, Chevret S, Debré 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. Ko J, Radigan L, Cunningham-Rundles C. Immune competence and switched memory B cells in common variable immunodeficiency. Clin Immunol 2005;116:37-41.
42. 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.
43. Levy Y, Gupta N, Le Deist F, Garcia C, Fischer A, Weill JC, Reynaud CA. Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome. Proc Natl Acad Sci USA 1998;95:13135-40.
44. Andersen P, Permin H, Andersen V, Schejbel L, Garred P, Svejgaard A, Barington T. 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):511-7.
45. Bonhomme D, Hammarstrom L, Webster D, Chapel H, Hermine O, Le Deist F, Lepage E, Romeo PH, Levy Y. Impaired antibody affinity maturation process characterizes a subset of patients with common variable immunodeficiency. J Immunol 2000;165:4725-30.
46. Ko J, Radigan L, Cunningham-Rundles C. Immune competence and switched memory B cells in common variable immunodeficiency. Clin Immunol 2005;116:37-41.
47. North ME, Akbar A, Borthwick N, Webster AD, Farrant J. Anti-CD28 enhances defective mitogen responses by mononuclear cells from patients with common variable immunodeficiency. Immunodeficiency 1993;4:17-8.
48. North ME, Akbar AN, Borthwick N, Sagawa K, Funauchi M, Webster AD, Farrant J. Co-stimulation with anti-CD28 (Kolt-2) enhances DNA synthesis by defective T cells in common variable immunodeficiency. Clin Exp Immunol 1994;95:204-8.
49. Majolini MB, D'Elios MM, Boncristiano M, Galieni P, Del Prete G, Telford JL, Baldari CT. Uncoupling of T-cell antigen receptor and downstream protein tyrosine kinases in common variable immunodeficiency. Clin Immunol Immunopathol 1997;84:98-102.
50. Aukrust P, Aandahl EM, Skalhegg BS, Nordoy I, Hansson V, Tasken K, Froland SS, Muller F. Increased activation of protein kinase A type I contributes to the T cell deficiency in common variable immunodeficiency. J Immunol 1999;162:1178-85.
51. North ME, Spickett GP, Allsop J, Webster AD, Farrant J. Defective DNA synthesis by T cells in acquired 'common-variable' hypogammaglobulinaemia on stimulation with mitogens. Clin Exp Immunol 1989;76:19-23.
52. North ME, Ivory K, Funauchi M, Webster AD, Lane AC, Farrant J. Intracellular cytokine production by human CD4+ and CD8+ T cells from normal and immunodeficient donors using directly conjugated anti-cytokine antibodies and three-colour flow cytometry. Clin Exp Immunol 1996;105:517-22.
53. North ME, Webster AD, Farrant J. Primary defect in CD8+ lymphocytes in the antibody deficiency disease (common variable immunodeficiency): abnormalities in intracellular production of interferon-gamma (IFN-gamma) in CD28+ ('cytotoxic') and CD28- ('suppressor') CD8+ subsets. Clin Exp Immunol 1998;111:70-5.
54. Kruger G, Welte K, Ciobanu N, Cunningham-Rundles C, Ralph P, Venuta S, Feldman S, Koziner B, Wang CY, Moore MA, et al. Interleukin-2 correction of defective in vitro T-cell mitogenesis in patients with common varied immunodeficiency. J Clin Immunol 1984;4:295-303.
55. McQuaid A, Tormey VJB. Trafford, Webster AD, Bofill M. Evidence for increased expression of regulatory cytokine receptors interleukin-12R and interleukin-18R in common variable immunodeficiency. Clin Exp Immunol 2003;134:321-7.
56. Stagg A, Knight SC, Webster AD, Farrant J. Failure of primary and secondary T cell responses in common variable immunodeficiency. Immunodeficiency 1993;4:13-4.
57. Kondratenko I, Amlot PL, Webster AD, Farrant J. Lack of specific antibody response in common variable immunodeficiency (CVID) associated with failure in production of antigen-specific memory T cells. MRC Immunodeficiency Group. Clin Exp Immunol 1997;108:9-13.
58. Farrington M, Grosmaire LS, Nonoyama S, Fischer SH, Hollenbaugh D, Ledbetter JA, Noelle RJ, Aruffo A, Ochs HD. CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency. Proc Natl Acad Sci USA 1994;91:1099-103.
59. Wright JJ, Wagner DK, Blaese RM, Hagengruber C, Waldmann TA, Fleisher TA. Characterization of common variable immunodeficiency: identification of a subset of patients with distinctive immunophenotypic and clinical features. Blood 1990;76:2046-51.
60. Mullighan CG, Fanning GC, Chapel HM, Welsh KI. TNF and lymphotoxin-alpha polymorphisms associated with common variable immunodeficiency: role in the pathogenesis of granulomatous disease. J Immunol 1997;159:6236-41.
61. Mullighan CG, Marshall SE, Bunce M, Welsh KI. Variation in immunoregulatory genes determines the clinical phenotype of common variable immunodeficiency. Genes Immun 1999;1:137-48.
62. 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;87:674-81.
63. Bayry J, Lacroix-Desmazes S, Kazatchkine MD, Galicier L, Lepelletier Y, Webster D, Levy Y, Eibl MM, Oksenhendler E, Hermine O, Kaveri SV. Common variable immunodeficiency is associated with defective functions of dendritic cells. Blood 2004;104:2441-3.
64. Scott-Taylor TH, Green MR, Eren E, Webster AD. Monocyte derived dendritic cell responses in common variable immunodeficiency. Clin Exp Immunol 2004;138:484-90.
65. Cunningham-Rundles C, Radigan L. Deficient IL-12 and dendritic cell function in common variable immune deficiency. Clin Immunol 2005;115:147-53.
66. Vorechovsky I, Litzman J, Lokaj J, Sobotkova R. Family studies in common variable immunodeficiency. J Hyg Epidemiol Microbiol Immunol 1991;35:17-26.
67. Schroeder HW Jr, Zhu ZB, March RE, Campbell RD, Berney SM, Nedospasov SA, Turetskaya RL, Atkinson TP, Go RC, Cooper MD, Volanakis JE. Susceptibility locus for IgA deficiency and common variable immunodeficiency in the HLA-DR3, -B8, -A1 haplotypes. Mol Med 1998;4:72-86.
68. Vorechovsky I, Blennow E, Nordenskjold M, Webster AD, Hammarstrom L. A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency: evidence from meiotic mapping of 83 multiple-case families. J Immunol 1999;163:2236-42.
69. Vorechovsky I, Cullen M, Carrington M, Hammarstrom L, Webster AD. Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families. J Immunol 2000;164:4408-16.
70. Vorechovsky I, Webster AD, Hammarstrom L. Mapping genes underlying complex disorders: progress on IgA deficiency and common variable immunodeficiency. Adv Exp Med Biol 2001;495:183-90.
71. Schroeder HW Jr, Schroeder HW III, Sheikh SM. The complex genetics of common variable immunodeficiency. J Investig Med 2004;52:90-103.
72. Kanegane H, Tsukada S, Iwata T, Futatani T, Nomura K, Yamamoto J, Yoshida T, Agematsu K, Komiyama A, Miyawaki T. Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry. Clin Exp Immunol 2000;120:512-7.
73. Morra M, Silander O, Calpe S, Choi M, Oettgen H, Myers L, Etzioni A, Buckley R, Terhorst C. Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome. Blood 2001;98:1321-5.
74. Fleischman A, Hershfield MS, Toutain S, Lederman HM, Sullivan KE, Fasano MB, Greene J, Winkelstein JA. Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. Clin Diagn Lab Immunol 1998;5:399-400.
75. Eastwood D, Gilmour KC, Nistala K, Meaney C, Chapel H, Sherrell Z, Webster AD, Davies EG, Jones A, Gaspar HB. Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. Clin Exp Immunol 2004;137:584-8.
76. Chun HJ, Zheng L, Ahmad M, Wang J, Speirs CK, Siegel RM, Dale JK, Puck J, Davis J, Hall CG, Skoda-Smith S, Atkinson TP, Straus SE, Lenardo MJ. Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 2002; 9:395-9.
77. Orange JS, Levy O, Geha RS. Human disease resulting from gene mutations that interfere with appropriate nuclear factor-kappaB activation. Immunol Rev 2005; 203:21-37.
78. 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;4:261-8.
79. van Zelm MC, Reisli I, van der Burg M, Castano D, van Noesel CJM, van Tol MJD, Woellner C, Grimbacher B, Patino PJ, van Dongen JJM, Franco JL. An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med 2006;354:1901-12.
80. Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, Geha RS. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005;37:829-34.
81. Salzer U, Chapel HM, Webster ADB, 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;37:820-8.
82. Seshasayee D, Valdez P, Yan M, Dixit VM, Tumas D, Grewal IS. Loss of TACI causes fatal lymphoproliferation and autoimmunity, establishing TACI as an inhibitory BLyS receptor. Immunity (2003);18:279-88.