Verma Sheetal, Laxmi Vijay, Maury Jayhind
Department of Microbiology, Faculty of Medicine, King George's Medical University, Lucknow, Uttar Pradesh, India, 226003.
Department of Microbiology, Faculty of Medicine, King George's Medical University, Lucknow, Uttar Pradesh, India, 226003.
Immunol Lett. 2025 Dec;276:107068. doi: 10.1016/j.imlet.2025.107068. Epub 2025 Aug 7.
Inborn errors of immunity (IEI), traditionally known as primary immunodeficiencies, are genetically driven disorders that impair immune function. Emerging evidence suggests a strong connection between IEI and metabolic syndrome, including obesity, insulin resistance, and cardiovascular diseases, highlighting the complex interplay between immune and metabolic pathways. This review focuses on how changes in key immune regulatory genes can lead to both immune dysfunction and metabolic problems. Genome Wide Association Studies (GWAS) and Next Generation Sequencing (NGS) have identified numerous genetic variants that link immune and metabolic dysregulation. Both immune system dysfunction and metabolic imbalances are associated with mutations in several key genes such as STAT3, NLRP3, and FOXP3. Pharmacological interventions targeting inflammatory pathways, such as cytokine inhibitors and inflammasome modulators, offer promising therapeutic strategies to address both aspects of these intertwined conditions. Moreover, lifestyle modifications, including anti-inflammatory diets and physical activity, are essential components of a comprehensive approach to mitigate inflammation and improve metabolic outcomes. Advances in genomic profiling drive precision medicine, enabling the tailoring of treatments based on individual genetic variants, optimizing therapy for both immune and metabolic dysfunction. Personalized risk assessments incorporating genetic data further refine preventive strategies for metabolic syndrome. This cited approach underscores the importance of a holistic, integrated approach to unraveling the shared mechanisms of immune and metabolic dysregulation, offering insights into novel diagnostic and therapeutic strategies for these multifactorial disorders.
遗传性免疫缺陷（IEI），传统上称为原发性免疫缺陷，是由基因驱动的损害免疫功能的疾病。新出现的证据表明，IEI与代谢综合征之间存在密切联系，包括肥胖、胰岛素抵抗和心血管疾病，突出了免疫和代谢途径之间复杂的相互作用。本综述重点关注关键免疫调节基因的变化如何导致免疫功能障碍和代谢问题。全基因组关联研究（GWAS）和下一代测序（NGS）已经确定了许多与免疫和代谢失调相关的基因变异。免疫系统功能障碍和代谢失衡都与几个关键基因的突变有关，如STAT3、NLRP3和FOXP3。针对炎症途径的药物干预，如细胞因子抑制剂和炎性小体调节剂，为解决这些相互交织的病症的两个方面提供了有前景的治疗策略。此外，生活方式的改变，包括抗炎饮食和体育活动，是减轻炎症和改善代谢结果的综合方法的重要组成部分。基因组分析的进展推动了精准医学的发展，能够根据个体基因变异定制治疗方案，优化针对免疫和代谢功能障碍的治疗。纳入基因数据的个性化风险评估进一步完善了代谢综合征的预防策略。这种引用的方法强调了采用整体、综合方法来揭示免疫和代谢失调共同机制的重要性，为这些多因素疾病的新型诊断和治疗策略提供了见解。
