Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

Annu Rev Immunol. 2009:27:621-68. doi: 10.1146/annurev.immunol.25.022106.141627.

Abstract

The autoinflammatory diseases are characterized by seemingly unprovoked episodes of inflammation, without high-titer autoantibodies or antigen-specific T cells. The concept was proposed ten years ago with the identification of the genes underlying hereditary periodic fever syndromes. This nosology has taken root because of the dramatic advances in our knowledge of the genetic basis of both mendelian and complex autoinflammatory diseases, and with the recognition that these illnesses derive from genetic variants of the innate immune system. Herein we propose an updated classification scheme based on the molecular insights garnered over the past decade, supplanting a clinical classification that has served well but is opaque to the genetic, immunologic, and therapeutic interrelationships now before us. We define six categories of autoinflammatory disease: IL-1beta activation disorders (inflammasomopathies), NF-kappaB activation syndromes, protein misfolding disorders, complement regulatory diseases, disturbances in cytokine signaling, and macrophage activation syndromes. A system based on molecular pathophysiology will bring greater clarity to our discourse while catalyzing new hypotheses both at the bench and at the bedside.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Autoimmune Diseases / classification*
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology*
  • Carrier Proteins / genetics
  • Carrier Proteins / immunology
  • Carrier Proteins / metabolism
  • Cytokines / genetics
  • Cytokines / immunology
  • Cytokines / metabolism
  • Humans
  • Inflammation / classification*
  • Inflammation / genetics
  • Inflammation / immunology*
  • Interleukin-1beta / genetics
  • Interleukin-1beta / immunology
  • Interleukin-1beta / metabolism
  • NF-kappa B / genetics
  • NF-kappa B / immunology
  • NF-kappa B / metabolism
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Phosphotransferases (Alcohol Group Acceptor) / immunology
  • Phosphotransferases (Alcohol Group Acceptor) / metabolism
  • Tumor Necrosis Factor-alpha / genetics
  • Tumor Necrosis Factor-alpha / immunology
  • Tumor Necrosis Factor-alpha / metabolism

Substances

  • Carrier Proteins
  • Cytokines
  • Interleukin-1beta
  • NF-kappa B
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Tumor Necrosis Factor-alpha
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase