[Clinical overview of auto-inflammatory diseases]

Rev Med Interne. 2018 Apr;39(4):214-232. doi: 10.1016/j.revmed.2018.01.004. Epub 2018 Feb 28.
[Article in French]


Monogenic auto-inflammatory diseases are characterized by genetic abnormalities coding for proteins involved in innate immunity. They were initially described in mirror with auto-immune diseases because of the absence of circulating autoantibodies. Their main feature is the presence of peripheral blood inflammation in crisis without infection. The best-known auto-inflammatory diseases are mediated by interleukines that consisted in the 4 following diseases familial Mediterranean fever, cryopyrinopathies, TNFRSF1A-related intermittent fever, and mevalonate kinase deficiency. Since 10 years, many other diseases have been discovered, especially thanks to the progress in genetics. In this review, we propose the actual panorama of the main known auto-inflammatory diseases. Some of them are recurrent fevers with crisis and remission; some others evaluate more chronically; some are associated with immunodeficiency. From a physiopathological point of view, we can separate diseases mediated by interleukine-1 and diseases mediated by interferon. Then some polygenic inflammatory diseases will be shortly described: Still disease, Schnitzler syndrome, aseptic abscesses syndrome. The diagnosis of auto-inflammatory disease is largely based on anamnesis, the presence of peripheral inflammation during attacks and genetic analysis, which are more and more performant.

Keywords: Auto-inflammatory diseases; Fièvres récurrentes monogéniques; Interferon-mediated disease; Interleukin-1 mediated-disease; Maladies auto-inflammatoires; Maladies médiées par les interférons; Maladies médiées par l’interleukine-1; Monogenic recurrent fevers.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Genetic Predisposition to Disease
  • Hereditary Autoinflammatory Diseases / diagnosis*
  • Hereditary Autoinflammatory Diseases / genetics
  • Hereditary Autoinflammatory Diseases / physiopathology
  • Humans
  • Immunity, Innate / genetics
  • Immunity, Innate / immunology
  • Inflammation / immunology
  • Mutation