Common variable immune deficiency: reviews, continued puzzles, and a new registry (original) (raw)

• Cunningham-Rundles C. Common variable immunodeficiency. Curr Allergy Asthma Rep 2001;1:421–9.
  Article PubMed CAS Google Scholar
• Janeway CA, Apt L, Gitlin D. Agammaglobulinemia. Trans Assoc Am Physicians 1953;66:200–2.
  PubMed CAS Google Scholar
• Sanford JP. Absence of serum gamma globulins in an adult. N Engl J Med 1954;250:1027–9.
  Article PubMed CAS Google Scholar
• Hermans PE, Diaz-Buxo JA, Stobo JD. Idiopathic late-onset immunoglobulin deficiency. Clinical observations in 50 patients. Am J Med 1976;61:221–37.
  Article PubMed CAS Google Scholar
• Cunningham-Rundles C. Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. J Clin Immunol 1989;9:22–33.
  Article PubMed CAS Google Scholar
• Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999;92:34–48.
  Article PubMed CAS Google Scholar
• Hermaszewski RA, Webster AD. Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications. Q J Med 1993;86:31–42.
  PubMed CAS Google Scholar
• 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.
  PubMed Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• Hammarstrom L, Vorechovsky I, Webster D. Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID). Clin Exp Immunol 2000;120:225–31.
  Article PubMed CAS Google Scholar
• Kainulainen L, Nikoskelainen J, Ruuskanen O. Diagnostic findings in 95 Finnish patients with common variable immunodeficiency. J Clin Immunol 2001;21:145–9.
  Article PubMed CAS Google Scholar
• Spickett GP. Current perspectives on common variable immunodeficiency (CVID). Clin Exp Allergy 2001;31:536–42.
  Article PubMed CAS Google Scholar
• Sneller MC. Common variable immunodeficiency. Am J Med Sci 2001;321:42–8.
  Article PubMed CAS Google Scholar
• Buckley RH. Pulmonary complications of primary immunodeficiencies. Paediatr Respir Rev 2004;5(Suppl A):S225–33.
  Article PubMed Google Scholar
• 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.
  CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed Google Scholar
• Cunningham-Rundles C. Hematologic complications of primary immune deficiencies. Blood Rev 2002;16:61–4.
  Article PubMed CAS Google Scholar
• Etzioni A. Immune deficiency and autoimmunity. Autoimmun Rev 2003;2:364–9.
  Article PubMed CAS Google Scholar
• 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.
  Article CAS Google Scholar
• Wang J, Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun 2005;25:57–62.
  Article PubMed CAS Google Scholar
• 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.
  Article CAS Google Scholar
• Mechanic LJ, Dikman S, Cunningham-Rundles C. Granulomatous disease in common variable immunodeficiency. Ann Intern Med 1997;127:613–7.
  PubMed CAS Google Scholar
• Morimoto Y, Routes JM. Granulomatous disease in common variable immunodeficiency. Curr Allergy Asthma Rep 2005;5:370–5.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• Ko J, Radigan L, Cunningham-Rundles C. Immune competence and switched memory B cells in common variable immunodeficiency. Clin Immunol 2005;116:37–41.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Google Scholar
• 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.
  PubMed CAS Google Scholar
• Ko J, Radigan L, Cunningham-Rundles C. Immune competence and switched memory B cells in common variable immunodeficiency. Clin Immunol 2005;116:37–41.
  Article PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• Cunningham-Rundles C, Radigan L. Deficient IL-12 and dendritic cell function in common variable immune deficiency. Clin Immunol 2005;115:147–53.
  Article PubMed CAS Google Scholar
• Vorechovsky I, Litzman J, Lokaj J, Sobotkova R. Family studies in common variable immunodeficiency. J Hyg Epidemiol Microbiol Immunol 1991;35:17–26.
  PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• Schroeder HW Jr, Schroeder HW III, Sheikh SM. The complex genetics of common variable immunodeficiency. J Investig Med 2004;52:90–103.
  Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar
• 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.
  Article PubMed CAS Google Scholar