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)


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.


High Linkage Disequilibrium Common Variable Immunodeficiency CVID Patient Autoimmune Complication Immunology Today 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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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

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