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

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Progress in Basic and Clinical Immunology

Part of the book series: Advances in Experimental Medicine and Biology ((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.

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References

  1. Aksu, F., Mietens, C. and Scholz, W. (1976). Klin Padiat 188, 220–32.

    Google Scholar 

  2. Ambrus, M., Hernadi, E. and Bajtai, G. (1977). Clin Immunol Immunopathol 7, 311–314.

    Google Scholar 

  3. Burrows, P. D. and Cooper, M. D. (1997). Adv Immunol 65, 245–276.

    Google Scholar 

  4. Collins, A. (2000). Pac Symp Biocomput, 651–62.

    Google Scholar 

  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. Consortium. (1999). Nature 401, 921–923.

    Google Scholar 

  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. 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. 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. Eibl, M. M. and Wolf, H. M. (1995). Folia Microbiol 40, 360–6.

    Google Scholar 

  11. Espanol, T., Catala, M., Hernandez, M., Caragol, I. and Bertran, J. M. (1996). Clin Immunol Immunopathol 80, 333–335.

    Google Scholar 

  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. French, M. A. and Dawkins, R. L. (1990). Immunology Today 11, 271–4.

    Google Scholar 

  14. Hammarstrom, L., Persson, M. A. and Smith, C. I. (1983). Scand J Immunol 18, 509–513.

    Google Scholar 

  15. Hammarstrom, L., Vorechovsky, I. and Webster, D. (2000). Clin Exp Immunol 120, 22531.

    Google Scholar 

  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. Hsieh, S.-L., March, R., Khanna, A., Cross, S. J. and Campbell, R. D. (1997). J Rheumatol 24, 220–222.

    Google Scholar 

  18. Ishizaka, A., Nakanishi, M., Yamada, S., Sakiyama, Y. and Matsumoto, S. (1989). Eur J Pediat149, 175–176.

    Google Scholar 

  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. Koistinen, J. (1976). Vox Sanguinis 30, 181–190.

    Google Scholar 

  21. Koskinen, S., Tolo, H., Hirvonen, M. and Koistinen, J. (1994). J Clin Immunol 14, 116119.

    Google Scholar 

  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. 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. Mullighan, C. G., Marshall, S. E. and Welsh, K. I. (2000). Scand J Immunol 51, 111–22.

    Google Scholar 

  25. Olerup, O., Smith, C. I., Bjorkander, J. and Hammarstrom, L. (1992). Proc Natl Acad SciUSA 89, 10653–10657.

    Google Scholar 

  26. Olerup, O., Smith, C. I. and Hammarstrom, L. (1990). Nature 347, 289–290.

    Google Scholar 

  27. Olerup, O., Smith, C. I. and Hammarstrom, L. (1991). Immunology Today 12, 134–6.

    Google Scholar 

  28. Olsson, P. G., Hammarstrom, L., Cox, D. W. and Smith, C. I. (1992). Immunogenetics 36, 389–95.

    Google Scholar 

  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. 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. 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. Schroeder, H. W. J. (2000). Clin Rev Allergy Immuno. 19, 127–140.

    Google Scholar 

  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. Strober, W. and Chua, K. (2000). Clin Rev Allergy Immunol 19, 157–181.

    Google Scholar 

  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. Vorechovsky, I., Blennow, E., Nordenskjold, M., Webster, A. D. and Hammarstrom, L. (1999a). J Immunol 163, 2236–42.

    Google Scholar 

  37. Vorechovsky, I., Cullen, M., Carrington, M., Hammarstrom, L. and Webster, A. D. (2000). J Immunol 164, 4408–16.

    Google Scholar 

  38. Vorechovsky, I., Webster, A. D., Plebani, A. and Hammarstrom, L. (1999b). Am J Hum Genet 64, 1096–109.

    Google Scholar 

  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. Wilton, A. N., Cobain, T. J. and Dawkins, R. L. (1985). Immunogenetics 21, 333–342.

    Google Scholar 

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Author information

Authors and Affiliations

  1. University College London, London, UK

    I. Vorechovsky

  2. Royal Free Campus, London, UK

    A. D. B. Webster

  3. Karolinska Institute at NOVUM, Huddinge, Sweden

    L. Hammarstrom

Authors
  1. I. Vorechovsky
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  2. A. D. B. Webster
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  3. L. Hammarstrom
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Editor information

Editors and Affiliations

  1. GreatPoland Cancer Center, University School of Medical Sciences, Poznan, Poland

    Andrzej Mackiewicz

  2. Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland

    Maciej Kurpisz

  3. Department of Immunology, University School of Medical Sciences, Poznan, Poland

    Jan Żeromski

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© 2001 Springer Science+Business Media New York

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Vorechovsky, I., Webster, A.D.B., Hammarstrom, L. (2001). Mapping genes underlying complex disorders: progress on IgA deficiency and common variable immunodeficiency. In: Mackiewicz, A., Kurpisz, M., Żeromski, J. (eds) Progress in Basic and Clinical Immunology. Advances in Experimental Medicine and Biology, vol 495. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0685-0_25

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  • DOI: https://doi.org/10.1007/978-1-4615-0685-0_25

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-5194-8

  • Online ISBN: 978-1-4615-0685-0

  • eBook Packages: Springer Book Archive

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