Genomics of Autoinflammatory Diseases

What are Autoinflammatory Diseases

Autoinflammatory diseases are rare diseases characterised by dysfunction of innate immune system. These are not synonymous with autoimmune diseases which are typically caused by an abnormality of the adaptive immune system.

Autoinflammatory diseases typically have a strong genetic predisposition. A number of genes involved in the development, maturation and functionality of the innate immune system has been implicated. In addition, many of the diseases shown close association with population ancestry and are also therefore prevalent differentially in different parts of the world.

Autoinflammatory diseases presents with recurrent attacks of excessive inflammatory response which manifests as fever, skin rash, arthritis, serositis, conjunctivitis to name a few. These episodes are accompanied by marked elevation of inflammatory markers. Patients are normal in between episodes. Age of onset is usually in childhood and could be a differential for recurrent episodes of fever or pyrexia of unknown origin in children and young adults. Causes for recurrent fever such as infectious, malignancy, autoimmune and factitious are more common and needs to be ruled out. The diagnosis of autoinflammatory needs to be considered in patients with characteristic clinical picture especially if backed by family history and ethnicity.