DefinePK

Abstract

Background: Autoimmune disorders are becoming more common and have a large impact on patient's quality of life. Autoimmunity mechanisms and therapeutic intervention evaluation are needed to improve patient outcomes.
Objectives: The key mechanisms of autoimmune diseases (genetic predisposition, environmental triggers, immune dysregulation) and current therapeutic strategies are investigated. Furthermore, it explores emerging treatments and the challenges in clinical practice.
Methods: A review of the literature and recent studies on the genetic, molecular, and cytokine factors involved in the pathogenesis of autoimmune diseases, such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). The therapeutic efficacy of biological therapies and personalized treatment approaches were evaluated.
Results: Major risk factors identified were genetic predisposition, infections, and smoking. Disease onset was found to be dependent on specific HLA alleles (HLA-DR3, HLA-DR4) and molecular mimicry. Chronic inflammation is caused by pro-inflammatory cytokines such as TNF-α and IL-6. Biologic therapies (infliximab and rituximab) proved to be effective therapeutics for SLE and RA. Biomarker early detection such as anti–nuclear antibodies (ANA) and rheumatoid factor (RF) helps in accurate diagnosis. New and more effective treatments—possibly for inherited traits, such as in rare diseases that once could never have been cured, and for diseases like asthma, in which new treatments such as JAK inhibitors and gene editing technologies could lead to dramatic improvement—could be found through precision medicine.
Conclusions: Multifactorial etiology of autoimmune diseases requires the development of patient-customized therapies involving genetic screening and combination therapies for improved patient outcomes. While progress has been made in biologics, there is still work to be done: biologics cost too much, patients do not adhere to treatment, and some populations in low and middle-income countries do not even have access to care. Novel therapeutic targets and epigenetic mechanisms, as well as the microbiome, need further research.