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Genetics and autoantibodies

  • ETIO PATHOGENESIS OF AUTOIMMUNITY
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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.

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Authors and Affiliations

  1. Reumatologia, Dipartimento di Medicina Interna e Specialità Mediche, Sapienza Università di Roma, Rome, Italy

    Carlo Perricone, Fulvia Ceccarelli & Guido Valesini

  2. The Zabludowicz Center for Autoimmune Diseases, Chaim Sheba Medical Center, 52621, Tel-Hashomer, Israel

    Nancy Agmon-Levin & Yehuda Shoenfeld

  3. Center for Autoimmune Diseases Research (CREA), Universidad del Rosario, Bogotá, Colombia

    Juan-Manuel Anaya

  4. Sackler Faculty of Medicine, Incumbent of the Laura Schwarz-Kip Chair for Research of Autoimmune Diseases, Tel-Aviv University, 39040, Tel-Aviv, Israel

    Yehuda Shoenfeld

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  1. Carlo Perricone
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  2. Nancy Agmon-Levin
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  3. Fulvia Ceccarelli
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  4. Guido Valesini
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  6. Yehuda Shoenfeld
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Correspondence to Yehuda Shoenfeld.

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Perricone, C., Agmon-Levin, N., Ceccarelli, F. et al. Genetics and autoantibodies. Immunol Res 56, 206–219 (2013). https://doi.org/10.1007/s12026-013-8396-9

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