© 2006

Immunogenetics of Autoimmune Disease


Part of the Medical Intelligence Unit book series (MIUN)

Table of contents

  1. Front Matter
    Pages i-xi
  2. Kai W. Wucherpfennig
    Pages 1-12
  3. Silke Schmidt, Lisa F. Barcellos
    Pages 13-27
  4. Regine Bergholdt, Michael F. McDermott, Flemming Pociot
    Pages 28-40
  5. Yoshiyuki Ban, Yaron Tomer
    Pages 41-58
  6. Dorothée Chabas, Isabelle Cournu-Rebeix, Bertrand Fontaine
    Pages 59-74
  7. Marcela K. Tello-Ruiz, Emily C. Walsh, John D. Rioux
    Pages 92-118
  8. Renato Mantegazza, Pia Bernasconi
    Pages 119-134
  9. Mattias Olsson, Sven Hagnerud, David U. R. Hedelius, Per-Arne Oldenborg
    Pages 135-143
  10. Mehmet L. Guler, Davinna Ligons, Noel R. Rose
    Pages 144-154
  11. Back Matter
    Pages 155-158

About this book


utoimmunity is the downstream outcome of a rather extensive and coordinated series of events that include loss of self-tolerance, peripheral lymphocyte Aactivation, disruption of the blood-systems barriers, cellular infiltration into the target organs and local inflammation. Cytokines, adhesion molecules, growth factors, antibodies, and other molecules induce and regulate critical cell functions that perpetuate inflammation, leading to tissue injury and clinical phenotype. The nature and intensity of this response as well as the physiological ability to restore homeostasis are to a large extent conditioned by the unique amino acid sequences that define allelic variants on each of the numerous participating mol­ ecules. Therefore, the coding genes in their germline configuration play a primary role in determining who is at risk for developing such disorders, how the disease progresses, and how someone responds to therapy. Although genetic components in these diseases are clearly present, the lack of obvious and homogeneous modes of transmission has slowed progress by prevent­ ing the full exploitation of classical genetic epidemiologic techniques. Furthermore, autoimmune diseases are characterized by modest disease risk heritability and m- tifaceted interactions with environmental influences. Yet, several recent discoveries have dramatically changed our ability to examine genetic variation as it relates to human disease. In addition to the development of large-scale laboratory methods and tools to efficiently recognize and catalog DNA diversity, over the past few years there has been real progress in the application of new analytical and data-manage­ ment approaches.


autoimmune disease autoimmunity diseases genetics genome immunity

Authors and affiliations

  1. 1.Department of NeurologyUniversity of California, San FranciscoSan FranciscoUSA
  2. 2.INSERM U563Toulouse-PurpanFrance

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