| Title: | Clinical and biological relevance of somatic mutations in genes associated with autoinflammatory disorders |
| Lead Institution: | University of Leeds |
| Principal investigator: | Dr Sinisa Savic |
Application 82060
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About
The main purpose of the immune system is to protect our bodies from infection with viruses, bacteria and parasites. There is a group of conditions known as autoinflammatory disorders (AID) in which part of the immune system acts in an uncontrolled fashion and attacks healthy body tissues. These conditions are not always easy to recognise since many characteristic symptoms of AID, such as intermittent fevers, are also seen in people who are suffering from an infection. This means that it can be very difficult to make a diagnosis. A genetic cause has been found for several AIDs and this has been hugely helpful in making the diagnosis and selecting the best treatment. However, there are many patients in whom an obvious genetic cause is unknown. This is particularly the case for people who first develop symptoms in adulthood (> 50%). We now know that in some of these patients the genetic changes were not present at birth, but developed at a point in later life. Such genetic changes are acquired in a similar way to the genetic changes which lead to cancer, but instead of causing cancer they cause an inflammatory condition. Based on preliminary studies, we believe that acquired AIDs are more common then previously thought. However, their exact prevalence is not known. We also do not know how long it takes to develop an AID from the point when the acquired genetic change is first detected. We plan to use genetic information from the UK biobank to determine how commonly these genetic changes are seen in otherwise healthy people, and then follow up a selected group for up to 5 years to determine if the genetic changes progress and eventually cause disease. It is important to be able to identify AID early because we now have excellent treatments available. With our work, we also hope to gain important insights into the chronic inflammatory diseases which are common as people age, because there is likely to be overlap between the acquired genetic changes seen in these conditions and AIDs.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 15222 | Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population | Ana Martinez Rodriguez (+15) | 2025 | British Journal of Haematology |
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