Genes and Microbiota Interaction in Monogenic Autoimmune Disorders

• Published in: Biomedicines Vol. 11; no. 4; p. 1127
• Main Authors: Costa, Federica, Beltrami, Eleonora, Mellone, Simona, Sacchetti, Sara, Boggio, Elena, Gigliotti, Casimiro Luca, Stoppa, Ian, Dianzani, Umberto, Rolla, Roberta, Giordano, Mara
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01-04-2023; MDPI
• Subjects: Analysis; Antigens; Arthritis; Autoimmune diseases; autoimmunity; B cells; Cytokines; Cytotoxicity; Disease; DNA methylation; Genes; Genetic analysis; Genetic aspects; Genetic research; Homeostasis; Immune response; Immune system; Immunological tolerance; Inflammation; Lupus; Lymphocytes; Medical research; Medicine, Experimental; Metabolites; Microbiota; Microbiota (Symbiotic organisms); Microorganisms; monogenic disease; Pathogenesis; Procainamide; Review; Small intestine; Vitamin D; Vitamin deficiency; United States; microbiota; monogenic disease; autoimmunity
• ISSN: 2227-9059; 2227-9059
• 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.