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Genetics and autoantibodies

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Perricone, Carlo
Agmon-Levin, Nancy
Ceccarelli, Fulvia
Valesini, Guido
Anaya, Juan-Manuel
Shoenfeld, Yehuda

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2013

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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. © 2013 Springer Science+Business Media New York.
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Autoantibody , Autoimmune regulator protein , genetic , Deoxyribonuclease i , Dna methyltransferase 1 , Hla dqb1 antigen , Hla drb1 antigen , Interferon regulatory factor 7 , Interleukin 10 , Mitochondrion antibody , Neutrophil cytoplasmic antibody , Phospholipid antibody , Rheumatoid factor , Stat4 protein , Thyrotropin receptor antibody , Transforming growth factor beta , Tumor necrosis factor receptor associated factor 1 , Vitamin d , Age , Allele , Antigen presentation , Article , Autoimmune disease , Autoimmune hepatitis , Autoimmune thyroiditis , Autoimmunity , B lymphocyte , Cd8+ t lymphocyte , Dermatomyositis , Diet , Disease course , Dna polymorphism , Enteritis , Epstein barr virus , Epstein barr virus infection , Gender , Gene interaction , Genetic association , Genetic predisposition , Genetic variability , Genetics , Habit , Hla system , Hormone determination , Human , Human genome , Hypertension , Hypothesis , Immune response , Immune system , Immunogenicity , Immunoglobulin a deficiency , Immunological tolerance , Insulin dependent diabetes mellitus , Juvenile dermatomyositis , Lymphocyte differentiation , Lymphocyte proliferation , Mononucleosis , Multiple sclerosis , Nonhuman , Pathophysiology , Pemphigus , Primary biliary cirrhosis , Priority journal , Saccharomyces cerevisiae , Single nucleotide polymorphism , Sjoegren syndrome , Smoke , Systemic lupus erythematosus , Systemic sclerosis , T lymphocyte , Ulcerative colitis , Vasculitis , Vitamin blood level , Animals , Autoantibodies , Autoantigens , Autoimmune diseases , Gene-environment interaction , Genetic predisposition to disease , Hla antigens , Homeostasis , Hormones , Humans , Polymorphism , Self tolerance , Autoantibody , Autoimmunity , Genetic , Polymorphisms , Saccharomyces cerevisiae , Systemic lupus erythematosus
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