Monogenic Autoinflammatory Diseases


Defects in the immune system that result in spontaneous inflammation are termed autoinflammatory disorders. In contrast to autoimmune diseases, they are not mediated by autoantibodies or autoreactive lymphocytes. Prominent features include fevers and rash, although other symptoms are observed. Flares are typically episodic and vary in severity, but do not worsen over time as in autoimmune disorders. Recent improvements in genetic technologies have led to the characterisation of multiple autoinflammatory syndromes. Prior to understanding the underlying mechanisms, these were treated with systemic anti‐inflammatory medications such as NSAIDs or glucocorticoids, which have adverse side effects. Advances in understanding the underlying etiologies have led to the discovery of novel options for targeted treatments.

Key Concepts

  • Autoinflammatory syndromes are characterised by fevers, rash, arthritis, myalgias and various other symptoms, although each syndrome may not present with all of these.
  • Autoinflammatory syndromes are related to the innate arm rather than the adaptive arm of the immune system.
  • The autoinflammatory syndromes typically first present in childhood.
  • The inflammasome and interleukin 1 (IL‐1) are key mediators in many autoinflammatory syndromes.
  • Genetic testing provides a definitive diagnosis of the underlying etiology of autoinflammatory syndromes.
  • Understanding the various pathways of autoinflammatory syndromes provides multiple targets of novel treatment modalities.

Keywords: autoinflammatory; periodic fever; fever syndrome; interleukin‐1; tumour necrosis factor; inflammasome


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Further Reading

Autoinflammatory Alliance (

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How to Cite close
Verbsky, James, and Gallagher, Joel(Feb 2016) Monogenic Autoinflammatory Diseases. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0024864]