Immunologic Research

, Volume 56, Issue 2, pp 206–219

Genetics and autoantibodies

  • Carlo Perricone
  • Nancy Agmon-Levin
  • Fulvia Ceccarelli
  • Guido Valesini
  • Juan-Manuel Anaya
  • Yehuda Shoenfeld
ETIO PATHOGENESIS OF AUTOIMMUNITY

DOI: 10.1007/s12026-013-8396-9

Cite this article as:
Perricone, C., Agmon-Levin, N., Ceccarelli, F. et al. Immunol Res (2013) 56: 206. doi:10.1007/s12026-013-8396-9

Abstract

Autoimmune diseases (ADs) are chronic conditions initiated by the loss of immunological tolerance to self-antigens. The pathogenic hypothesis comprises a complex interaction between genetic, environmental and hormonal factors that interact with an individual over time generating a dysregulation of the immune system leading to disease development. Several polymorphic genes contribute to the development of ADs. Furthermore, age and gender play a major role by influencing hormone levels that can represent the fulcrum unbalancing from susceptibility to protection. Evidences suggest that while all these steps occur, the susceptible individual develops autoantibodies over a long time lapse. Such autoantibody production is genetically determined and finally, their presence seems to determine the clinical presentation of ADs. The genetic predisposition to the developments of autoantibodies and toward the disease process may overlap. The unveiling of these mechanisms could allow not only to treat but also to prevent the development of autoimmune diseases.

Keywords

GeneticPolymorphismsAutoimmunityAutoantibodySystemic lupus erythematosusSaccharomyces cerevisiae

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Carlo Perricone
    • 1
  • Nancy Agmon-Levin
    • 2
  • Fulvia Ceccarelli
    • 1
  • Guido Valesini
    • 1
  • Juan-Manuel Anaya
    • 3
  • Yehuda Shoenfeld
    • 2
    • 4
  1. 1.Reumatologia, Dipartimento di Medicina Interna e Specialità MedicheSapienza Università di RomaRomeItaly
  2. 2.The Zabludowicz Center for Autoimmune DiseasesChaim Sheba Medical CenterTel-HashomerIsrael
  3. 3.Center for Autoimmune Diseases Research (CREA)Universidad del RosarioBogotáColombia
  4. 4.Sackler Faculty of Medicine, Incumbent of the Laura Schwarz-Kip Chair for Research of Autoimmune DiseasesTel-Aviv UniversityTel-AvivIsrael