Otoantikorlar ve Otoimmün Hastalık Tanısındaki Rolleri

Authors

Zeynep Ayaydın
https://orcid.org/0000-0002-4701-1212

Synopsis

Autoantibodies are immunoglobulins directed against the body’s own components and play important roles in the development and clinical evaluation of autoimmune diseases. Their production is associated with impaired immune tolerance, abnormal B-cell activation, T-cell responses, and cytokine signaling, while genetic and environmental factors also contribute to these processes. Natural autoantibodies may support physiological balance, whereas pathogenic autoantibodies can promote inflammation and tissue damage. Autoantibodies are classified according to their target antigens and tissue distribution, with several serving as valuable diagnostic and prognostic biomarkers. Anti-dsDNA in systemic lupus erythematosus, anti-CCP in rheumatoid arthritis, ANCA in vasculitis, and thyroid autoantibodies are important examples of their clinical applications. Autoantibody testing also contributes to the assessment of disease activity, prognosis, and treatment response. However, laboratory findings should always be interpreted alongside clinical features. Recent advances in the identification of novel autoantibodies, multiplex testing technologies, targeted therapies, and artificial intelligence-based analyses offer new opportunities for improved diagnosis and personalized treatment. This chapter reviews the biological basis, classification, pathogenic roles, clinical applications, and emerging developments related to autoantibodies.

References

Kumar M, Li L, Collier K. Autoimmune disease: genetic susceptibility, environmental triggers, and immune dysregulation. Nat Rev Immunol. 2025.

Song Y, Zhao Y, Qiu Y, et al. Evolving understanding of autoimmune mechanisms and new therapeutic strategies. Signal Transduct Target Ther. 2024;9(1):315.

Avrameas S. Natural autoantibodies in the physiology and pathophysiology. J Autoimmun. 2013;41:1-10.

Lobo PI, Akhter E, Clayton BK, et al. Role of natural autoantibodies and natural IgM anti-neo-epitopes in health and disease. Front Immunol. 2016;7:198.

Yasmeen F, Mir F, Siddiqui Z, et al. Mechanisms, predisposing factors, and cytokine therapies in autoimmunity. Int J Mol Sci. 2024;25(14):7666.

Harroud A, Brum DG, Cochet-Fainère L, et al. Common genetic factors among autoimmune diseases. Science. 2023;379(6630):adg2992.

Reyneveld GIJ, Beyer C, Wigley FM, et al. Current understanding of natural antibodies and exploring their clinical potential. Front Immunol. 2020;11:2139.

Burbelo PD, Iadarola MJ. Autoantibodies as biomarkers for autoimmune diseases and cancer. Clin Exp Immunol. 2023;212(2):134-146.

Karnell JL, Karnell FG, Stephens GL. The role of cytokines in autoimmune disease and therapy. Nat Rev Rheumatol. 2024;20(5):321-336.

Vinuesa CG, Linterman MA, Yu D. Follicular helper T cells in autoimmunity. Nat Rev Immunol. 2016;16(9):612-625.

Crotty S. T follicular helper cell biology: a decade of discovery and diseases. Nat Rev Immunol. 2019;19(1):13-25.

Psarras A, Emery P, Vital EM. Type I interferon–mediated autoimmune disease. Nat Rev Rheumatol. 2023;19(3):175-189.

Elkon K, Casali P. Nature and functions of autoantibodies. Nat Rev Rheumatol. 2008;4(9):491-498.

Tan EM, Smolen JS. Historical observations contributing insights on etiopathogenesis of systemic rheumatic diseases. Nat Rev Rheumatol. 2016;12(6):363-372.

Mahler M, Radice A, Yang W, et al. Autoantibodies in systemic autoimmune diseases: diagnostic utility and challenges. Nat Rev Rheumatol. 2024;20(3):145-160.

Caturegli P, De Remigis A, Rose NR. Hashimoto thyroiditis: clinical and diagnostic criteria. Autoimmun Rev. 2014;13(4-5):391-397.

Katsarou A, Gudbjörnsdottir S, Rawshani A, et al. Type 1 diabetes mellitus. Nat Rev Dis Primers. 2017;3:17016.

Pisetsky DS, Lipsky PE. New insights into the role of antinuclear antibodies in systemic lupus erythematosus. Nat Rev Rheumatol. 2020;16(10):565-579.

Aletaha D, Smolen JS. Diagnosis and management of rheumatoid arthritis: a review. JAMA. 2018;320(13):1360-1372.

Jennette JC, Falk RJ. Pathogenesis of antineutrophil cytoplasmic autoantibody–mediated disease. Nat Rev Rheumatol. 2014;10(8):463-473.

Tsokos GC. Autoimmunity and organ damage in systemic lupus erythematosus. Nat Immunol. 2020;21(6):605-614.

Gilhus NE. Myasthenia gravis. N Engl J Med. 2016;375(26):2570-2581.

Smith TJ, Hegedüs L. Graves’ disease. N Engl J Med. 2016;375(16):1552-1565.

Pisetsky DS. Anti-DNA antibodies—quintessential biomarkers of SLE. Nat Rev Rheumatol. 2016;12(2):102-110.

Rubin RL. Drug-induced lupus. Expert Opin Drug Saf. 2015;14(3):361-378.

Smolen JS, Aletaha D, Barton A, et al. Rheumatoid arthritis. Nat Rev Dis Primers. 2018;4:18001.

Jennette JC, Falk RJ, Bacon PA, et al. 2012 revised International Chapel Hill Consensus Conference nomenclature of vasculitides. Arthritis Rheum. 2013;65(1):1-11.

Caturegli P, Kimura H, Rocchi R, et al. Autoimmune thyroid diseases. Endocr Rev. 2021;42(6):753-792.

Insel RA, Dunne JL, Atkinson MA, et al. Staging presymptomatic type 1 diabetes: a scientific statement. Diabetes Care. 2015;38(10):1964-1974.

Schmidt E, Kasperkiewicz M, Joly P. Pemphigus. Lancet. 2019;394(10201):882-894.

Mahler M, Fritzler MJ. The clinical significance of autoantibodies. Clin Rev Allergy Immunol. 2017;52(3):307-319.

Jennette JC, Falk RJ. Pathogenesis and diagnosis of ANCA-associated vasculitides. Nat Rev Rheumatol. 2014;10(8):463-473.

Mok CC, Lau CS. Pathogenesis of systemic lupus erythematosus. J Clin Pathol. 2003;56(7):481-490.

van der Helm-van Mil AHM, Huizinga TWJ. Advances in the genetics of rheumatoid arthritis point to subclassification into distinct disease subsets. Arthritis Res Ther. 2008;10(2):205.

Terrier B, Charles P, Mouthon L, et al. ANCA-associated vasculitides: clinical aspects and treatment. Autoimmun Rev. 2021;20(9):102907.

Conrad K, Roggenbuck D, Reinhold D, et al. Multiplex assays for autoantibodies in systemic autoimmune diseases. Autoimmun Rev. 2022;21(4):103024.

Choi MY, Clarke AE, St. Pierre Y, et al. Personalized medicine in autoimmune diseases: current state and future directions. Nat Rev Rheumatol. 2023;19(5):285-299.

Sato S, Hoshino K. Anti-MDA5 antibody-positive dermatomyositis: advances in pathogenesis and clinical management. Lancet Rheumatol. 2022;4(3):e200-e212.

Beck LH Jr, Bonegio RGB, Lambeau G, et al. M-type phospholipase A2 receptor as target antigen in idiopathic membranous nephropathy. N Engl J Med. 2009;361(1):11-21.

Conrad K, Roggenbuck D, Reinhold D, et al. Multiplex assays for autoantibodies in systemic autoimmune diseases. Autoimmun Rev. 2022;21(4):103024.

Mahler M, Meroni PL, Bossuyt X, et al. Current concepts and future directions for the assessment of autoantibodies. Nat Rev Rheumatol. 2024;20(8):481-493.

Stone JH, Merkel PA, Spiera R, et al. Rituximab versus cyclophosphamide for ANCA-associated vasculitis. N Engl J Med. 2010;363(3):221-232.

Navarra SV, Guzmán RM, Gallacher AE, et al. Efficacy and safety of belimumab in patients with active systemic lupus erythematosus. Lancet. 2011;377(9767):721-731.

Scherlinger M, Guillotin V, Truchetet ME, et al. Machine learning in autoimmune diseases: recent advances and future applications. Nat Rev Rheumatol. 2023;19(10):600-614.

Davis J, Chen J, Bruner BF, et al. Artificial intelligence in autoimmunity: integration of omics and clinical data. Front Immunol. 2023;14:1187735.

Mahler M, Radice A, Yang W, et al. Autoantibodies in systemic autoimmune diseases: clinical utility and perspectives. Nat Rev Rheumatol. 2024;20(3):145-160.

Smolen JS, Aletaha D, McInnes IB. Rheumatoid arthritis. Lancet. 2016;388(10055):2023-2038.

Pisetsky DS, Lipsky PE. New insights into autoantibodies in systemic lupus erythematosus. Nat Rev Rheumatol. 2020;16(10):565-579.

Scherlinger M, Guillotin V, Truchetet ME, et al. Machine learning in autoimmune diseases: recent advances and future applications. Nat Rev Rheumatol. 2023;19(10):600-614.

Davis J, Chen J, Bruner BF, et al. Artificial intelligence in autoimmunity: integration of omics and clinical data. Front Immunol. 2023;14:1187735.

Published

October 15, 2026

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