Inflammation of unknown origin (IUO) remains an important diagnostic problem in clinical practice, especially in adults. This research project aims to use a multidimensional approach to better understand the causes of IUO and increase the accuracy of diagnosis. The study will include three main components: genetic analysis using primary immune deficiency (PID) panels, mRNA expression profiles, and characterisation of interferon and cytokine signatures.
Adult patients with IUO will participate in a prospective cohort study, in which mRNA expression profiling will be used to identify dysregulation in the expression of immune-related genes, type of interferonopathy, serum and, if necessary, genetic screening can be performed on both known and potential PID-related genes.
The project aims to increase diagnostic yield and will lead to the identification of new biomarkers and potential therapeutic targets.