Comparisons of CVID and IgGSD: Referring Physicians, Autoimmune Conditions, Pneumovax Reactivity, Immunoglobulin Levels, Blood Lymphocyte Subsets, and HLA-A and -B Typing in 432 Adult Index Patients

Journal of Immunology Research

Volumn 2014, Issue , 2014, Pages

  Barton, James C ^a,b,c   Bertoli, Luigi F ^a,b,d   Barton, J Clayborn ^b  

^a Brookwood Medical Center Birmingham   (United States)

^b SOUTHERN IRON DISORDERS CENTER   (United States)

^c University of Alabama at Birmingham   (United States)

^d Brookwood Biomedical   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD16 ANTIGEN; CD3 ANTIGEN; CD4 ANTIGEN; CD56 ANTIGEN; CD8 ANTIGEN; HLA A ANTIGEN; HLA B ANTIGEN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G1; IMMUNOGLOBULIN G3; IMMUNOGLOBULIN G4; PNEUMOCOCCUS VACCINE; FC RECEPTOR; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

ADULT; ARTICLE; COMMON VARIABLE IMMUNODEFICIENCY; COMPARATIVE STUDY; FEMALE; HAPLOTYPE; HUMAN; HYPOTHYROIDISM; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN G DEFICIENCY; LYMPHOCYTE SUBPOPULATION; MAJOR CLINICAL STUDY; MALE; PHYSICIAN; SJOEGREN SYNDROME; STREPTOCOCCUS PNEUMONIAE; VACCINATION; AUTOIMMUNE DISEASE; BLOOD; GENETICS; IMMUNOLOGY; METABOLISM; MIDDLE AGED; PATIENT REFERRAL; STATISTICAL MODEL;

ADULT; ANTIGENS, CD3; ANTIGENS, CD56; AUTOIMMUNE DISEASES; COMMON VARIABLE IMMUNODEFICIENCY; FEMALE; HAPLOTYPES; HLA-A ANTIGENS; HLA-B ANTIGENS; HUMANS; IGG DEFICIENCY; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; LOGISTIC MODELS; LYMPHOCYTE SUBSETS; MALE; MIDDLE AGED; PNEUMOCOCCAL VACCINES; RECEPTORS, IGG; REFERRAL AND CONSULTATION; STREPTOCOCCUS PNEUMONIAE;

EID: 84931417377     PISSN: 23148861     EISSN: 23147156     Source Type: Journal    
DOI: 10.1155/2014/542706     Document Type: Article

References (63)

1. C. Cunningham-Rundles and C. Bodian, "Common variable immunodeficiency: clinical and immunological features of 248 patients, " Clinical Immunology, vol. 92, no. 1, pp. 34-48, 1999.
2. H. Chapel, M. Lucas, M. Lee et al., "Common Variable immunodeficiency disorders: division into distinct clinical phenotypes, " Blood, vol. 112, no. 2, pp. 277-286, 2008.
3. J. H. Park, E. S. Resnick, and C. Cunningham-Rundles, "Perspectives on common variable immune deficiency, " Annals of the New York Academy of Sciences, vol. 1246, no. 1, pp. 41-49, 2011.
4. T. Söderström, R. Söderström, A. Avanzini, P. Brandtzaeg, G. Karlsson, and L. A. Hanson, "Immunoglobulin G subclass deficiencies, " International Archives of Allergy and Applied Immunology, vol. 82, no. 3-4, pp. 476-480, 1987.
5. E. Sarmiento, R. Mora, M. Rodríguez-Mahou, J. Rodríguez-Molina, E. Fernández-Cruz, and J. Carbone, "Autoimmune disease in primary antibody deficiencies, " Allergologia et Immunopathologia, vol. 33, no. 2, pp. 69-73, 2005.
6. F. Abrahamian, S. Agrawal, and S. Gupta, "Immunological and clinical profile of adult patients with selective immunoglobulin subclass deficiency: response to intravenous immunoglobulin therapy, " Clinical and Experimental Immunology, vol. 159, no. 3, pp. 344-350, 2010.
7. H. W. Schroeder Jr., Z. Zhu, R. E. March et al., "Susceptibility locus for IgA deficiency and common variable immunodeficiency in the HLA-DR3,-B8,-A1 haplotypes, " Molecular Medicine, vol. 4, no. 2, pp. 72-86, 1998.
8. C. A. Alper, D. Marcus-Bagley, Z. Awdeh et al., "Prospective analysis suggests susceptibility genes for deficiencies of IgA and several other immunoglobulins on the [HLA-B8, SC01, DR3] conserved extended haplotype, " Tissue Antigens, vol. 56, no. 3, pp. 207-216, 2000.
9. I. Vořechovský, M. Cullen, M. Carrington, L. Hammarström, andA. D. B.Webster, "Finemapping of IGAD1 in IgA deficiency and common variable immunodeficiency: identification and characterization of haplotypes shared by affected members of 101 multiple-case families, " Journal of Immunology, vol. 164, no. 8, pp. 4408-4416, 2000.
10. J.C.Barton, L. F. Bertoli, andR.T.Acton, "HLA-Aand-B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in central Alabama, " BMC Medical Genetics, vol. 4, article 3, 2003.
11. J. Kralovicova, L. Hammarström, A. Plebani, A. D. B. Webster, and I. Vorechovsky, "Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency, " Journal of Immunology, vol. 170, no. 5, pp. 2765-2775, 2003.
12. M. E. Conley, L. D. Notarangelo, and A. Etzioni, "Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-AmericanGroup for Immunodeficiency) and ESID (European Society for Immunodeficiencies), " Clinical Immunology, vol. 93, no. 3, pp. 190-197, 1999.
13. A. Aghamohammadi, V. Lougaris, A. Plebani, T. Miyawaki, A. Durandy, and L. Haaammarström, "Predominantly antibody deficiencies, " in Primary Immunodeficiency Diseases, N. Rezaei, A. Aghamohammadi, and L.D.Notarangelo, Eds., chapter 3, pp. 97-130, Springer, Berlin, Germany, 2008.
14. C. C. Murphy, R. T. Acton, B. O. Barger et al., "Population genetic analyses of insulin dependent diabetes mellitus using HLAallele frequencies, " Clinical Genetics, vol. 23, no. 6, pp.405-414, 1983.
15. R. T. Acton, L. Harman, R. C. P. Go, M.-L. Tseng, and W. Bias, "Comparison of HLA phenotypes among African Americans fromAlabama, Maryland, andNorthCarolina, " Transplantation Proceedings, vol. 25, no. 4, pp. 2404-2407, 1993.
16. J.C.Barton, C. Q. Edwards, L. F. Bertoli, T.W. Shroyer, and S. L. Hudson, "Iron overload in African Americans, " The American Journal of Medicine, vol. 99, no. 6, pp. 616-623, 1995.
17. G. Shulman, G. C. Gilich, and M. J. A. Andrew, "Serum immunoglobulins G, A andMinWhite and Black adults on the Witwatersrand, " South African Medical Journal, vol. 49, no. 29, pp. 1160-1164, 1975.
18. M. Lewis, M. Miyashiro, J. Huton, L. Miller, and K. Sperber, "Immunoglobulin and IgG subclass levels in the African American and Hispanic populations of east Harlem, " Mount Sinai Journal of Medicine, vol. 65, no. 2, pp. 139-145, 1998.
19. S. O'Keeffe, A. Gzel, R. Drury, M. Cullina, J. Greally, and P. Finnegan, "Immunoglobulin G subclasses and spirometry in patients with chronic obstructive pulmonary disease, " European Respiratory Journal, vol. 4, no. 8, pp. 932-936, 1991.
20. S. L. Hill, J. L. Mitchell, D. Burnett, and R. A. Stockley, "IgG subclasses in the serum and sputum from patients with bronchiectasis, " Thorax, vol. 53, no. 6, pp. 463-468, 1998.
21. U. Schauer, F. Stemberg, C. H. L. Rieger et al., "IgG subclass concentrations in certified reference material 470 and reference values for children and adults determined with the binding site reagents, " Clinical Chemistry, vol. 49, no. 11, pp. 1924-1929, 2003.
22. J. S. Orange, M. Ballow, E. R. Stiehm et al., "Use and interpretation of diagnostic vaccination in primary immunodeficiency: a working group report of the Basic and Clinical Immunology Interest Section of the AmericanAcademy ofAllergy, Asthma& Immunology, " Journal of Allergy and Clinical Immunology, vol. 130, no. 3, pp. S1-S24, 2012.
23. P. Price, C. Witt, R. Allcock et al., "The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases, " Immunological Reviews, vol. 167, pp. 257-274, 1999.
24. E. S. Resnick, E. L.Moshier, J. H.Godbold, andC.Cunningham-Rundles, "Morbidity and mortality in common variable immune deficiency over 4 decades, " Blood, vol. 119, no. 7, pp. 1650-1657, 2012.
25. C. Wehr, T. Kivioja, C. Schmitt et al., "The EUROclass trial: defining subgroups in common variable immunodeficiency, " Blood, vol. 111, no. 1, pp. 77-85, 2008.
26. B. Gathmann, N. Mahlaoui, L. Gerard et al., "Clinical picture and treatment of 2212 patients with common variable immunodeficiency, " Journal of Allergy & Clinical Immunology, vol. 134, no. 1, pp. 116.e11-126.e11, 2014.
27. C. Cunningham-Rundles, "Themany faces of common variable immunodeficiency, " Hematology, vol. 2012, pp. 301-305, 2012.
28. M. Michel, V. Chanet, L. Galicier et al., "Autoimmune thrombocytopenic purpura and common variableimmunodeficiency: analysis of 21 cases and review of the literature, " Medicine, vol. 83, no. 4, pp. 254-263, 2004.
29. A. K. Knight and C. Cunningham-Rundles, "Inflammatory and autoimmune complications of common variable immune deficiency, " Autoimmunity Reviews, vol. 5, no. 2, pp. 156-159, 2006.
30. D. Gobert, J. B. Bussel, C. Cunningham-Rundles et al., "Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients, " British Journal of Haematology, vol. 155, no. 4, pp. 498-508, 2011.
31. J. C. Podjasek and R. S. Abraham, "Autoimmune cytopenias in common variable immunodeficiency, " Frontiers in Immunology, vol. 3, article 189, 2012.
32. T. Söderström, R. Söderström, U. Bengtsson et al., "Clinical and immunological evaluation of patients low in single or multiple IgG subclasses, " Monographs in Allergy, vol. 20, pp. 135-142, 1986.
33. O. L. Quintero, M. J. Amador-Patarroyo, G. Montoya-Ortiz, A. Rojas-Villarraga, and J. Anaya, "Autoimmune disease and gender: Plausible mechanisms for the female predominance of autoimmunity, " Journal of Autoimmunity, vol. 38, no. 2-3, pp. J109-J119, 2012.
34. J. Boileau, G.Mouillot, L. Gérard et al., "Autoimmunity in common variable immunodeficiency: correlation with lymphocyte phenotype in the French DEFI study, " Journal of Autoimmunity, vol. 36, no. 1, pp. 25-32, 2011.
35. H. Abolhassani, D. Amirkashani, N. Parvaneh et al., "Autoimmune phenotype in patients with common variable immunodeficiency, " Journal of Investigational Allergology and Clinical Immunology, vol. 23, no. 5, pp. 323-329, 2013.
36. N. Ramírez-Vargas, S. E. Arablin-Oropeza, D.Mojica-Martínez et al., "Clinical and immunological features of common variable immunodeficiency in Mexican patients, " Allergologia et Immunopathologia, vol. 42, no. 3, pp. 235-240, 2014.
37. V. Bozoghlanian, S. Agrawal, and S. Gupta, "Comprehensive immunological and clinical features of common variable immunodeficiency (CVID), " Journal of Allergy & Clinical Immunology, vol. 133, no. 2, supplement, pp.AB7-AB7, 2014.
38. B. L. Ferry, J. Jones, E. A. Bateman et al., "Measurement of peripheral B cell subpopulations in common variable immunodeficiency (CVID) using a whole blood method, " Clinical and Experimental Immunology, vol. 140, no. 3, pp. 532-539, 2005.
39. M. J. de Vera, L. Al-Harthi, and A. T. Gewurz, "Assessing thymopoiesis in patients with common variable immunodeficiency as measured by T-cell receptor excision circles, " Annals of Allergy, Asthma and Immunology, vol. 93, no. 5, pp. 478-484, 2004.
40. A. Isgrò, M. Marziali, I. Mezzaroma et al., "Bone marrow clonogenic capability, cytokine production, and thymic output in patients with common variable immunodeficiency, " Journal of Immunology, vol. 174, no. 8, pp. 5074-5081, 2005.
41. A.Giovannetti, M. Pierdominici, F.Mazzetta et al., "Unravelling the complexity of T cell abnormalities in common variable immunodeficiency, " Journal of Immunology, vol. 178, no. 6, pp. 3932-3943, 2007.
42. U. Salzer, K. Warnatz, and H. H. Peter, "Common variable immunodeficiency - an update, " Arthritis Research and Therapy, vol. 14, no. 5, article 223, 2012.
43. A. M. Holm, E. A. Sivertsen, S. H. Tunheim et al., "Gene expression analysis of peripheral T cells in a subgroup of common variable immunodeficiency shows predominance of CCRT effector-memory T cells, " Clinical and Experimental Immunology, vol. 138, no. 2, pp. 278-289, 2004.
44. J. Viallard, P. Blanco, M. André et al., "CD8+HLA-DR+ T lymphocytes are increased in common variable immunodeficiency patients with impaired memory B-cell differentiation, " Clinical Immunology, vol. 119, no. 1, pp. 51-58, 2006.
45. M. Raeiszadeh, J. Kopycinski, S. J. Paston et al., "The T cell response to persistent herpes virus infections in common variable immunodeficiency, " Clinical and Experimental Immunology, vol. 146, no. 2, pp. 234-242, 2006.
46. A. M. Holm, G. Tjonnfjord, A. Yndestad et al., "Polyclonal expansion of large granular lymphocytes in common variable immunodeficiency - association with neutropenia, " Clinical and Experimental Immunology, vol. 144, no. 3, pp. 418-424, 2006.
47. R.M. Aspalter, W. A. C. Sewell, K. Dolman, J. Farrant, and A. D. B.Webster, "Deficiency in circulating natural killer (NK) cell subsets in common variable immunodeficiency and X-linked agammaglobulinaemia, " Clinical and Experimental Immunology, vol. 121, no. 3, pp. 506-514, 2000.
48. J. E. Volanakis, Z. B. Zhu, F. M. Schaffer et al., "Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency, " Journal of Clinical Investigation, vol. 89, no. 6, pp. 1914-1922, 1992.
49. A. A. Schäffer, J. Pfannstiel, A. D. B. Webster, A. Plebani, L. Hammarström, and B. Grimbacher, "Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q, " Human Genetics, vol. 118, no. 6, pp. 725-729, 2006.
50. R. C. Ferreira, Q. Pan-Hammarström, R. R. Graham et al., "Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency, " Nature Genetics, vol. 42, no. 9, pp. 777-780, 2010.
51. B. Grimbacher, A. Hutloff, M. Schlesier et al., "Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency, " Nature Immunology, vol. 4, no. 3, pp. 261-268, 2003.
52. H. Kanegane, K. Agematsu, T. Futatani et al., "Novel mutations in a Japanese patient with CD19 deficiency, " Genes and Immunity, vol. 8, no. 8, pp. 663-670, 2007.
53. K. Warnatz, U. Salzer, M. Rizzi et al., "B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans, " Proceedings of the National Academy of Sciences of the United States of America, vol. 106, no. 33, pp. 13945-13950, 2009.
54. T. W. Kuijpers, R. J. Bende, P. A. Baars et al., "CD20 deficiency in humans results in impaired T cell-independent antibody responses, " Journal of Clinical Investigation, vol. 120, no. 1, pp. 214-222, 2010.
55. J. Thiel, L. Kimmig, U. Salzer et al., "Genetic CD21 deficiency is associated with hypogammaglobulinemia, " Journal of Allergy and Clinical Immunology, vol. 129, no. 3, pp. 801.e6-810.e6, 2012.
56. M. C. van Zelm, J. Smet, B. Adams et al., "CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency, " Journal of Clinical Investigation, vol. 120, no. 4, pp. 1265-1274, 2010.
57. Q. Pan-Hammarström, U. Salzer, L. Du et al., "Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency, " Nature Genetics, vol. 39, no. 4, pp. 429-430, 2007.
58. C. Dechavanne, F. Guillonneau, G. Chiappetta et al., "Mass spectrometry detection of G3m and IGHG3 alleles and followup of differential mother and neonate IgG3, " PLoS ONE, vol. 7, no. 9, Article IDe46097, 2012.
59. A. Morell, F. Skvaril, A. G. Steinberg, E. van Loghem, andW. D. Terry, "Correlations between the concentrations of the four sub-classes of IgG and Gm Allotypes in normal human sera, " The Journal of Immunology, vol. 108, no. 1, pp. 195-206, 1972.
60. R. Grubb, T. Hallberg, L. Hammarstrom et al., "Correlation between deficiency of immunoglobulin subclass G3 and Gm allotype, " Acta Pathologica Microbiologica et Immunologica Scandinavica C, vol. 94, no. 5, pp. 187-191, 1986.
61. V. A. Oxelius, H. D. Ochs, and L. Hammarström, "Restricted immunoglobulin constant heavy G chain genes in primary immunodeficiencies, " Clinical Immunology, vol. 128, no. 2, pp. 190-198, 2008.
62. H. Sekine, R. C. Ferreira, Q. Pan-Hammarström et al., "Role for Msh5 in the regulation of Ig class switch recombination, " Proceedings of the National Academy of Sciences of the United States of America, vol. 104, no. 17, pp. 7193-7198, 2007.
63. J. S. Orange, J. T. Glessner, E. Resnick et al., "Genomewide association identifies diverse causes of common variable immunodeficiency, " Journal of AllergyandClinical Immunology, vol. 127, no. 6, pp. 1360.e6-1367.e6, 2011.