Working the endless puzzle of hereditary autoinflammatory disorders

Mod Rheumatol. 2014 May;24(3):381-9. doi: 10.3109/14397595.2013.843755. Epub 2013 Oct 18.

Abstract

Hereditary autoinflammatory disorders encompass manifold dysfunctions of innate immunity caused by mutations in genes coding for the main characters of the inflammatory scene: most of these conditions have an early onset, ranging from the first days of life to the first decades, and include hereditary periodic fevers, NLRP-related diseases, granulomatous and pyogenic syndromes, which are basically characterized by upturned inflammasome activity and overproduction of bioactive interleukin (IL)-1β and other proinflammatory cytokines. The discovery of a causative link between autoinflammation and IL-1β release has improved our understanding of the intimate mechanisms of innate immunity, and has likewise led to the identification of extraordinary treatments for many of these disorders.

Publication types

  • Review

MeSH terms

  • Cytokines / genetics*
  • Cytokines / metabolism
  • Hereditary Autoinflammatory Diseases / genetics*
  • Hereditary Autoinflammatory Diseases / metabolism
  • Humans
  • Immunity, Innate / genetics*
  • Interleukin-1beta / genetics*
  • Interleukin-1beta / metabolism

Substances

  • Cytokines
  • Interleukin-1beta