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- WEHI.TV
Autoinflammatory diseases

Autoinflammatory diseases are caused by abnormal activation of the innate immune system, leading to recurrent episodes of fever and inflammation that can damage vital organs.
Our researchers are revealing how the innate immune system goes awry in autoinflammatory disease. This research will enable development of more targeted treatments for these conditions.
Autoinflammatory disease research at WEHI
Our researchers are:
- Identifying the genetic causes of autoinflammatory disease.
- Improving our understanding of how the innate immune system works.
- Identifying targets for new drugs to treat autoinflammatory disease.
- Establishing a registry of people with autoinflammatory disease.
What are autoinflammatory diseases?
Autoinflammatory diseases are a group of rare diseases characterised by seemingly unprovoked episodes of fever and inflammation. Because the inflammatory episodes occur regularly, the diseases are also known as ‘periodic fever syndromes.’
on inflammationin response to infections, but can
also drive unwanted inflammation in some
autoinflammatory diseases.
Autoinflammatory diseases involve abnormal activation of the innate immune system.
The innate immune system is the body’s first line of defence against infection. When microbes such as bacteria or viruses invade the body, the innate immune system quickly responds by triggering fever and inflammation, which help the body fight infection.
The innate immune response also kick-starts a second wave of defence, called adaptive immunity, which is a slower but more specific response to infection.
Usually both the innate and the adaptive immune responses are tightly controlled. In autoinflammatory disease, however, the innate immune system is activated without apparent cause.
Autoinflammatory diseases are different from autoimmune diseases such as rheumatoid arthritis and multiple sclerosis, which are caused by dysfunction of the adaptive immune system.
Examples of autoinflammatory diseases include:
- Familial Mediterranean Fever (FMF)
- Cryopyrin-associated periodic syndromes (CAPS)
- Deficiency of IL-1-Receptor Antagonist (DIRA)
- Hyper IgD Syndrome (HIDS)
Symptoms of autoinflammatory disease
The most common symptom of autoinflammatory disease is recurrent fever. Other common symptoms include inflammation of muscles, joints, skin, the gastrointestinal tract and internal organs. If not properly controlled, repeated inflammation can lead to potentially fatal deposits of amyloid protein in vital organs like the kidney.
Causes of autoinflammatory diseases
Autoinflammatory diseases can involve inflammation
of many different organs in the body.
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.
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.
However, some people with autoinflammatory disease do not have a change in one of the known disease-causing genes. Our researchers are establishing the Australian Autoinflammatory Disease Registry to help identify other genetic causes of autoinflammatory diseases.
How are autoinflammatory diseases treated?
Autoinflammatory diseases are very rare, which in the past has made it difficult to develop effective treatments.
Recent insights into the causes of autoinflammatory diseases have allowed better treatments that target the parts of the innate immune system that are overactive. In many cases treatment involves drugs that block the signals innate immune cells use to trigger inflammation.
Find out more
For more information and support, visit:
Researchers:
Super Content:
The mystery of a rare, debilitating disease that has afflicted generations of European families – and long baffled their doctors – has been solved.
Melissa Bowyer raised funds for our research after her son was diagnosed with a rare auto-inflammatory condition.
A discovery opens the door for potential new treatments for inflammatory disease such as rheumatoid arthritis, Crohn’s disease and psoriasis.
WEHI.TV biomedical animation: the process of inflammation in type 2 diabetes via the 'inflammasome'