The burden of autoimmune diseases is increasing worldwide. Monogenic autoimmune polyendocrine syndrome type 1 (APS-1) belongs to Finnish disease heritage and can be studied to elucidate the mechanisms behind autoimmunity. Our previous study associated impaired bone health with disease severity. Enteroendocrine hormones secreted from the gut following nutrient intake regulate bone remodelling. This prospective cohort study will be conducted at Helsinki University Hospital, and aims to evaluate bone metabolism by longitudinal follow-up, describe the characteristics of mesenchymal stem cells and bone cells, and explore enteroendocrine and testicular functions together with bone metabolism in all Finnish patients living with APS-1. The results can be translated to improved management of this disease with severe course, and they will expand our general knowledge on autoimmune disease mechanisms in the crosstalk between hormones, metabolism, and self-tolerance.

2023

2027