MODERN DIAGNOSTIC STRATEGIES IN AUTOIMMUNE DISEASES
Abstract
Background: Autoimmune diseases constitute a heterogeneous group of disorders characterized by immune-mediated damage to self-tissues. Their prevalence has increased over recent decades, and early diagnosis remains challenging due to heterogeneous clinical presentations and overlapping symptoms. Advances in immunology and molecular biology have significantly transformed diagnostic approaches in autoimmune diseases.
Aim: This review discusses modern diagnostic strategies used in autoimmune diseases. It presents emerging serological, molecular, and multi-parameter diagnostic tools, as well as the role of personalized diagnostics and advanced data analysis methods in improving diagnostic accuracy .
Methods: The review was conducted using the PubMed, Web of Science, and Google Scholar databases, limited to full-text, open-access publications published between 2013 and 2025.
Results: Recent studies indicate that novel diagnostic approaches, including next-generation autoantibody profiling, molecular biomarkers, “omics”- based technologies, and advanced imaging methods, improve early disease detection and patient stratification. The integration of artificial intelligence and machine learning algorithms enhances the interpretation of complex clinical and laboratory data, increasing diagnostic sensitivity and specificity.
Conclusion: Modern diagnostic strategies significantly improve the early recognition and monitoring of autoimmune diseases. Integrating classical diagnostic methods with advanced molecular and computational tools supports the development of personalized medicine and may lead to better clinical outcomes in patients with autoimmune disorders.
References
Davidson A, Diamond B (2001). Autoimmune diseases. N Engl J Med, 345(5), 340–350. https://doi.org/10.1056/NEJM200108023450506
Choi J, Kim ST, Craft J (2012). The pathogenesis of systemic lupus erythematosus—an update. Curr Opin Immunol, 24(6), 651–657. https://doi.org/10.1016/j.coi.2012.10.004
Damoiseaux J, Andrade LEC, Carballo OG, et al. (2019). Clinical relevance of HEp-2 indirect immunofluorescent patterns: The ICAP perspective. Ann Rheum Dis, 78(7), 879–889. https://doi.org/10.1136/annrheumdis-2018-214436
Mahler M, Fritzler MJ (2010). Epitope specificity and diagnostic utility of autoantibodies in autoimmune diseases. Autoimmun Rev, 9(4), 245–249. https://doi.org/10.1111/j.1749-6632.2009.05127.x
Satoh M, Tanaka S, Chan EKL (2015). The uses and misuses of multiplex autoantibody assays in systemic autoimmune rheumatic diseases. Front Immunol, 6, 181. https://doi.org/10.3389/fimmu.2015.00181
He J, Baxter SL, Xu J, et al. (2019). The practical implementation of artificial intelligence technologies in medicine. Nat Med, 25(1), 30–36. https://doi.org/10.1038/s41591-018-0307-0
Kontos MC, Williams JW Jr, Wang T, et al. (2021). Integrating artificial intelligence and machine learning into autoimmune diagnostics. J Transl Autoimmun, 4, 100108. https://doi.org/10.1016/j.jtauto.2021.100108
Green BN, Johnson CD, Adams A (2006). Writing narrative literature reviews. J Chiropr Med, 5(3), 101–117. https://doi.org/10.1016/S0899-3467(07)60142-6
Pauley KM, Cha S, Chan EKL (2009). MicroRNA in autoimmunity. J Autoimmun, 32(3–4), 189–194. https://doi.org/10.1016/j.jaut.2009.02.012
Pisetsky DS (2016). Anti-DNA antibodies—biomarkers of SLE. Nat Rev Rheumatol, 12(2), 102–110. https://doi.org/10.1038/nrrheum.2015.151
Miotto R, Wang F, Wang S, et al. (2018). Deep learning for healthcare. Brief Bioinform, 19(6), 1236–1246. https://doi.org/10.1093/bib/bbx044
Molitor C, Kücker J, Kallinich T, Horneff G (2021). Telemedicine in autoimmune disease. JMIR Med Inform, 9(6), e25423. https://doi.org/10.2196/25423
Zeng P, Zhang W, Huang H (2022). Multi-omics integration for precision medicine. Brief Bioinform, 23(2), bbab534. https://doi.org/10.1093/bib/bbab534
Trouw LA, Pickering MC, Blom AM (2017). The complement system as a potential therapeutic target in rheumatic disease. Nat Rev Rheumatol, 13, 538–547. https://doi.org/10.1038/nrrheum.2017.125
Ma Y, Chen J, Wang T, et al. (2022). Accurate Machine Learning Model to Diagnose Chronic Autoimmune Diseases Utilizing Information From B Cells and Monocytes. Front Immunol, 13, 870531. https://doi.org/10.3389/fimmu.2022.870531
Topol EJ (2019). High-performance medicine. Nat Med, 25(1), 44–56. https://doi.org/10.1038/s41591-018-0300-7
Suhre K, Gieger C (2012). Genetic variation in metabolic phenotypes. Nat Rev Genet, 13, 759–769. https://doi.org/10.1038/nrg3314
Robinson WH, Fontoura P, Lee BJ, et al. (2003). Protein microarrays guide tolerizing DNA vaccine treatment of autoimmune encephalomyelitis. Nat Biotechnol, 21(9), 1033–1039. https://doi.org/10.1038/nbt859
Arbuckle MR, McClain MT, Rubertone MV, et al. (2003). Development of autoantibodies before SLE. N Engl J Med, 349(16), 1526–1533. https://doi.org/10.1056/NEJMoa021933
Banchereau R, Hong S, Cantarel B, et al. (2016). Personalized immunomonitoring uncovers molecular networks that stratify lupus patients. Cell, 165(3), 551–565. https://doi.org/10.1016/j.cell.2016.03.008
Esteva A, Robicquet A, Ramsundar B, et al. (2019). A guide to deep learning in healthcare. Nat Med, 25(1), 24–29. https://doi.org/10.1038/s41591-018-0316-z
Ioannidis JPA, Patsopoulos NA, Rothstein HR (2008). Reasons for avoiding meta-analysis. BMJ, 336(7658), 1413–1415. https://doi.org/10.1136/bmj.a117
Views:
27
Downloads:
107
Copyright (c) 2026 Bartosz Lautenbach, Anastasiia Holoborodko, Eliza Garbacz, Patrycja Stępińska, Agnieszka Pocheć, Ewa Wieczorkiewicz, Dariusz Nędza, Klaudia Wojciech, Anhelina Loputs, Wiktoria Błaszczyk

This work is licensed under a Creative Commons Attribution 4.0 International License.
All articles are published in open-access and licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0). Hence, authors retain copyright to the content of the articles.
CC BY 4.0 License allows content to be copied, adapted, displayed, distributed, re-published or otherwise re-used for any purpose including for adaptation and commercial use provided the content is attributed.

