Monogenic autoinflammatory diseases, also known as periodic fever syndromes, are a group of uncommon conditions characterized by abnormalities in the innate immune system.
Examples of autoinflammatory diseases include:
Familial Mediterranean Fever (FMF)
Cryopyrin-associated periodic syndrome (CAPS)
TNF Receptor-associated periodic syndrome (TRAPS)
Hyper IgD Syndrome (HIDS)
Autoinflammatory diseases are caused by changes in genes that regulate the innate immune system. These genetic changes can be passed from parents to their children, leading to multiple cases of disease in an extended family. Autoinflammatory diseases are different from autoimmune diseases such as rheumatoid arthritis and multiple sclerosis, which are caused by dysfunction of the adaptive immune system. Recent advances in genetics have enabled scientists to identify the genetic changes responsible for many autoinflammatory diseases. This has allowed genetic tests to be developed to help with diagnosis.
Rapid advances in genetics are providing unprecedented insight into functions of the innate immune system, with identification of the mutations that cause monogenic autoinflammatory diseases. This insight has resulted in a dramatic shift in the prognosis of patients with genetically defined conditions, through the use of targeted therapy. However, some people with autoinflammatory disease do not have a change in one of the known disease-causing genes or have a novel mutation of unknown pathogenicity.
Our researchers are establishing the Australian Autoinflammatory Disease Registry (AADRY) to help identify other genetic causes of autoinflammatory diseases as well as to provide health care professionals and researchers with information about the status of these diseases in Australia and how they are being managed.
The Australian Autoinflammatory Disease RegistrY (AADRY) has been established with three main goals:
Establish a knowledge base and data set that can be used by registry contributors to facilitate patient care and disseminate relevant information
Identification of patients who tested negative for a known mutation, and offer them the option of participating in a whole exome sequencing project
Validate the pathogenicity of novel variants, or variants in genes not previously associated with autoinflammatory disease
The organising committee for this registry includes clinicians from each of the major centres in Australia that treat patients with autoinflammatory disease. These organisations can enter details of their patients with autoinflammatory disease into an online database managed by the Masters laboratory at the Walter and Eliza Hall Institute.
Clinicians will be able to search de-identified data to find resources, and network with others who have experience in the treatment of these rare conditions. Based on this registry, individuals and several families who tested negative for a mutation in known autoinflammatory disease genes have now been consented for exome sequencing, blood collected, DNA prepared and exomes sequenced.
In the next five years we hope to capture all Australian autoinflammatory disease patients, which probably numbers between 100-200 people.