Immunogenetics of Autoimmune Disease

1. Front Matter

   Pages i-xi

   PDF

2. HLA and Autoimmunity

   • Kai W. Wucherpfennig

   Pages 1-12

3. Genomic Variation and Autoimmune Disease

   • Silke Schmidt, Lisa F. Barcellos

   Pages 13-27

4. Endocrine Diseases

   • Regine Bergholdt, Michael F. McDermott, Flemming Pociot

   Pages 28-40

5. Endocrine Diseases

   • Yoshiyuki Ban, Yaron Tomer

   Pages 41-58

6. Central and Peripheral Nervous System Diseases

   • Dorothée Chabas, Isabelle Cournu-Rebeix, Bertrand Fontaine

   Pages 59-74

7. Immunogenetics of Rheumatoid Arthritis, Systemic Sclerosis and Systemic Lupus Erythematosus

   • Allison Porter, J. Lee Nelson

   Pages 75-91

8. Gastroenterologic and Hepatic Diseases

   • Marcela K. Tello-Ruiz, Emily C. Walsh, John D. Rioux

   Pages 92-118

9. Inflammatory Myopathies

   • Renato Mantegazza, Pia Bernasconi

   Pages 119-134

10. Hematologic Diseases

    • Mattias Olsson, Sven Hagnerud, David U. R. Hedelius, Per-Arne Oldenborg

    Pages 135-143

11. Genetics of Autoimmune Myocarditis

    • Mehmet L. Guler, Davinna Ligons, Noel R. Rose

    Pages 144-154

12. Back Matter

    Pages 155-158

    PDF

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

• Department of Neurology, University of California, San Francisco, San Francisco, USA

  Jorge Oksenberg, David Brassat

• INSERM U563, Toulouse-Purpan, France

  David Brassat

Policies and ethics