Accelerating the diagnosis of children with autoinflammatory diseases (2021-2023)

Autoinflammatory disease (AD) is being increasing recognised in children but is difficult to diagnose. AD can cause uncontrolled inflammation leading to many different symptoms including fever, pain, arthritis, rash and mouth ulcers. Untreated some of these conditions can cause brain damage, hearing loss and even early death. Genetic testing is currently used for diagnosis but only it is only useful in a small number of cases. There are at least 70 families whose children are seen at QCH but most don¿t have a formal diagnosis. There are likely many more throughout QLD. This project aims to find a new approach to making the diagnosis and to develop a simple and rapid test to make it easier to detect AD. This will allow doctors to start targeted treatments to help relieve the symptoms and reduce the chances of long term medical problems.