Mapping genes underlying complex disorders: progress on IgA deficiency and common variable immunodeficiency

  • I. Vorechovsky
  • A. D. B. Webster
  • L. Hammarstrom
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 495)

Abstract

IgA deficiency (IgAD, MIM 137100) is the most frequent primary immunodeficiency in humans (for review see Burrows and Cooper, 1997; Hammarstrom et al., 2000). It is characterized by the absence of IgA in serum and mucosal secretions due to an as yet unidentified defect of terminal lymphocyte differentiation. Affected individuals may suffer from susceptibility to infections and autoimmune complications. While IgAD is defined by a laboratory measurement and is usually asymptomatic, common variable immunodeficiency (CVID, MIM 240500) is characterized clinically by overt susceptibility to infections and by frequent inflammatory and autoimmune symptomatology. In addition to the lack of IgA, CVID patients have decreased levels of additional isotypes in serum.

Keywords

Recombination Stratification Rheumatol Burrows Piras 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Aksu, F., Mietens, C. and Scholz, W. (1976). Klin Padiat 188, 220–32.Google Scholar
  2. 2.
    Ambrus, M., Hernadi, E. and Bajtai, G. (1977). Clin Immunol Immunopathol 7, 311–314.Google Scholar
  3. 3.
    Burrows, P. D. and Cooper, M. D. (1997). Adv Immunol 65, 245–276.Google Scholar
  4. 4.
    Collins, A. (2000). Pac Symp Biocomput, 651–62.Google Scholar
  5. 5.
    Concannon, P., Gogolin-Ewens, K. J., Hinds, D. A., Wapelhorst, B., Morrison, V. A., Stirling, B., Mitra, M., Farmer, J., Williams, S. R., Cox, N. J., Bell, G. I., Risch, N. and Spielman, R. S. (1998). Nat Genet 19, 292–6.Google Scholar
  6. 6.
    Consortium. (1999). Nature 401, 921–923.Google Scholar
  7. 7.
    Cueca, F., Zhu, Z. B., Khanna, A., Cossu, F., Congia, M., Badiali, M., Lampis, R., Frau, F., De Virgiliis, S., Cao, A., Arnone, M., Piras, P., Campbell, R. D., Cooper, M. D., Volanakis, J. E. and Powis, S. H. (1998). Clin Exp Immunol 111, 76–80.Google Scholar
  8. 8.
    De La Concha, E. G., Fernandez-Arquero, M., Martinez, A., Vidal, F., Vigil, P., Conejero, L., Garcia-Rodriguez, M. C. and Fontan, G. (1999). Clin Exp Immunol 116, 516–20.Google Scholar
  9. 9.
    Eaves, I. A., Merriman, T. R., Barber, R. A., Nutland, S., Tuomilehto-Wolf, E., Tuomilehto, J., Cueca, F. and Todd, J. A. (2000). Nat Genet 25, 320–3.Google Scholar
  10. 10.
    Eibl, M. M. and Wolf, H. M. (1995). Folia Microbiol 40, 360–6.Google Scholar
  11. 11.
    Espanol, T., Catala, M., Hernandez, M., Caragol, I. and Bertran, J. M. (1996). Clin Immunol Immunopathol 80, 333–335.Google Scholar
  12. 12.
    French, M., Dawkins, R., Christiansen, F. T., Zhang, W., Degli-Esposti, M. A. and Saueracker, G. (1991). Immunology Today 12, 135–136.Google Scholar
  13. 13.
    French, M. A. and Dawkins, R. L. (1990). Immunology Today 11, 271–4.Google Scholar
  14. 14.
    Hammarstrom, L., Persson, M. A. and Smith, C. I. (1983). Scand J Immunol 18, 509–513.Google Scholar
  15. 15.
    Hammarstrom, L., Vorechovsky, I. and Webster, D. (2000). Clin Exp Immunol 120, 22531.Google Scholar
  16. 16.
    Herr, M., Dudbridge, F., Zavattari, P., Cueca, F., Guja, C., March, R., Campbell, R. D., Barnett, A. H., Bain, S. C., Todd, J. A. and Koeleman, B. P. (2000). Hum Mol Genet 9, 1291–301.Google Scholar
  17. 17.
    Hsieh, S.-L., March, R., Khanna, A., Cross, S. J. and Campbell, R. D. (1997). J Rheumatol 24, 220–222.Google Scholar
  18. 18.
    Ishizaka, A., Nakanishi, M., Yamada, S., Sakiyama, Y. and Matsumoto, S. (1989). Eur J Pediat149, 175–176.Google Scholar
  19. 19.
    Johnson, M. L., Keeton, L. G., Zhu, Z.-B., Volanakis, J. E., Cooper, M. D. and Schroeder, H. W., Jr. (1997). Clin Exp Immunol 108, 477–483.Google Scholar
  20. 20.
    Koistinen, J. (1976). Vox Sanguinis 30, 181–190.Google Scholar
  21. 21.
    Koskinen, S., Tolo, H., Hirvonen, M. and Koistinen, J. (1994). J Clin Immunol 14, 116119.Google Scholar
  22. 22.
    Machulla, H. K., Schonermarck, U., Schaaf, A., Muller, L. P., Kloss, C., Kruger, J., Kunze, G., Schonermarck, G. and Langner, J. (2000). Scand J Immunol 52, 207–11.Google Scholar
  23. 23.
    MacLean, C. J., Martin, R. B., Sham, P. C., Wang, H., Straub, R. E. and Kendler, K. S. (2000). Am J Hum Genet 66, 1062–1075.Google Scholar
  24. 24.
    Mullighan, C. G., Marshall, S. E. and Welsh, K. I. (2000). Scand J Immunol 51, 111–22.Google Scholar
  25. 25.
    Olerup, O., Smith, C. I., Bjorkander, J. and Hammarstrom, L. (1992). Proc Natl Acad SciUSA 89, 10653–10657.Google Scholar
  26. 26.
    Olerup, O., Smith, C. I. and Hammarstrom, L. (1990). Nature 347, 289–290.Google Scholar
  27. 27.
    Olerup, O., Smith, C. I. and Hammarstrom, L. (1991). Immunology Today 12, 134–6.Google Scholar
  28. 28.
    Olsson, P. G., Hammarstrom, L., Cox, D. W. and Smith, C. I. (1992). Immunogenetics 36, 389–95.Google Scholar
  29. 29.
    Oxelius, V.-A., Laurell, A. B., Lindqvist, B., Henrika, G., Axelsson, U., Bjorkander, J. and Hanson, L. A. (1981). N Engl J Med 304, 1476–1477.Google Scholar
  30. 30.
    Schaffer, F. M., Palermos, J., Zhu, Z. B., Barger, B. O., Cooper, M. D. and Volanakis, J. E. (1989). Proc Natl Acad SciUSA 86, 8015–8019.Google Scholar
  31. 31.
    Schroeder, H. W., Jr., Zhu, Z. B., March, R. E., Campbell, R. D., Berney, S. M., Nedospasov, S. A., Turetskaya, R. L., Atkinson, T. P., Go, R. C., Cooper, M. D. and Volanakis, J. E. (1998). Mol Med 4, 72–86.Google Scholar
  32. 32.
    Schroeder, H. W. J. (2000). Clin Rev Allergy Immuno. 19, 127–140.Google Scholar
  33. 33.
    Spickett, G. P., Farrant, J., North, M. E., Zhang, J. G., Morgan, L. and Webster, A. D. (1997). Immunology Today 18, 325–8.Google Scholar
  34. 34.
    Strober, W. and Chua, K. (2000). Clin Rev Allergy Immunol 19, 157–181.Google Scholar
  35. 35.
    Volanakis, J. E., Zhu, Z.-B., Schaffer, F. M., Macon, K. J., Palermos, J., Berger, B. O., Go, R., Campbell, R. D., Schroeder, H. W. J. and Cooper, M. D. (1992). J Clin Invest 89, 1914–1922.Google Scholar
  36. 36.
    Vorechovsky, I., Blennow, E., Nordenskjold, M., Webster, A. D. and Hammarstrom, L. (1999a). J Immunol 163, 2236–42.Google Scholar
  37. 37.
    Vorechovsky, I., Cullen, M., Carrington, M., Hammarstrom, L. and Webster, A. D. (2000). J Immunol 164, 4408–16.Google Scholar
  38. 38.
    Vorechovsky, I., Webster, A. D., Plebani, A. and Hammarstrom, L. (1999b). Am J Hum Genet 64, 1096–109.Google Scholar
  39. 39.
    Vorechovsky, I., Zetterquist, H., Paganelli, R., Koskinen, S., Webster, A. D., Bjorkander, J., Smith, C. I. and Hammarstrom, L. (1995). Clin Immunol Immunopathol 77, 185–92.Google Scholar
  40. 40.
    Wilton, A. N., Cobain, T. J. and Dawkins, R. L. (1985). Immunogenetics 21, 333–342.Google Scholar

Copyright information

© Springer Science+Business Media New York 2001

Authors and Affiliations

  • I. Vorechovsky
    • 1
  • A. D. B. Webster
    • 2
  • L. Hammarstrom
    • 3
  1. 1.University College LondonLondonUK
  2. 2.Royal Free CampusLondonUK
  3. 3.Karolinska Institute at NOVUMHuddingeSweden

Personalised recommendations