Costa Federica, Beltrami Eleonora, Mellone Simona, Sacchetti Sara, Boggio Elena, Gigliotti Casimiro Luca, Stoppa Ian, Dianzani Umberto, Rolla Roberta, Giordano Mara
Department of Health Sciences, Università del Piemonte Orientale, 28100 Novara, Italy.
Maggiore della Carità University Hospital, 28100 Novara, Italy.
Biomedicines. 2023 Apr 8;11(4):1127. doi: 10.3390/biomedicines11041127.
Monogenic autoimmune disorders represent an important tool to understand the mechanisms behind central and peripheral immune tolerance. Multiple factors, both genetic and environmental, are known to be involved in the alteration of the immune activation/immune tolerance homeostasis typical of these disorders, making it difficult to control the disease. The latest advances in genetic analysis have contributed to a better and more rapid diagnosis, although the management remains confined to the treatment of clinical manifestations, as there are limited studies on rare diseases. Recently, the correlation between microbiota composition and the onset of autoimmune disorders has been investigated, thus opening up new perspectives on the cure of monogenic autoimmune diseases. In this review, we will summarize the main genetic features of both organ-specific and systemic monogenic autoimmune diseases, reporting on the available literature data on microbiota alterations in these patients.
单基因自身免疫性疾病是理解中枢和外周免疫耐受背后机制的重要工具。已知多种遗传和环境因素参与了这些疾病典型的免疫激活/免疫耐受稳态的改变，这使得疾病难以控制。尽管对罕见病的研究有限，遗传分析的最新进展有助于更好、更快速地进行诊断，不过治疗仍局限于临床表现的治疗。最近，人们研究了微生物群组成与自身免疫性疾病发病之间的相关性，从而为单基因自身免疫性疾病的治疗开辟了新的前景。在这篇综述中，我们将总结器官特异性和全身性单基因自身免疫性疾病的主要遗传特征，并报告这些患者微生物群改变的现有文献数据。
