AI Article Synopsis
- Monogenic autoimmune disorders help researchers understand how the immune system maintains tolerance, with various genetic and environmental factors complicating disease control.
- Advances in genetic testing have improved diagnosis speed, but treatment mainly focuses on symptoms due to a lack of research on these rare diseases.
- Recent studies are exploring the link between microbiota changes and autoimmune disease development, suggesting new potential treatment avenues for monogenic autoimmune conditions.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10135656 | PMC |
| http://dx.doi.org/10.3390/biomedicines11041127 | DOI Listing |
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