Autoinflammatory syndromes

Pediatr Clin North Am. 2012 Apr;59(2):447-70. doi: 10.1016/j.pcl.2012.03.005.

Abstract

There has been an expansion of the autoinflammatory syndromes due to the discovery of new diseases related to mutations in genes regulating the innate immune system and the knowledge gained from these diseases as applied to more common nongenetic inflammatory conditions. Autoinflammatory syndromes are characterized by unprovoked (or triggered by minor events) recurrent episodes of systemic inflammation involving various body systems, which are often accompanied by fever. Inflammation is mediated by polymorphonuclear and macrophage cells through cytokines, particularly interleukin-1. This article reviews the clinical approach to patients with suspected autoinflammatory syndromes, several of the main and new (mostly genetics) syndromes, advances in treatment, and prognosis.

Publication types

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

MeSH terms

  • Anti-Inflammatory Agents / therapeutic use
  • Child
  • Colchicine / therapeutic use
  • Cryopyrin-Associated Periodic Syndromes / diagnosis
  • Cryopyrin-Associated Periodic Syndromes / drug therapy
  • Cryopyrin-Associated Periodic Syndromes / etiology
  • Familial Mediterranean Fever / diagnosis
  • Familial Mediterranean Fever / drug therapy
  • Familial Mediterranean Fever / etiology
  • Hereditary Autoinflammatory Diseases* / diagnosis
  • Hereditary Autoinflammatory Diseases* / drug therapy
  • Hereditary Autoinflammatory Diseases* / etiology
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Interleukin 1 Receptor Antagonist Protein
  • Mevalonate Kinase Deficiency / diagnosis
  • Mevalonate Kinase Deficiency / drug therapy
  • Mevalonate Kinase Deficiency / etiology
  • Osteomyelitis / diagnosis
  • Osteomyelitis / drug therapy
  • Receptors, Interleukin-1 Type I / antagonists & inhibitors
  • Treatment Outcome
  • Tubulin Modulators / therapeutic use

Substances

  • Anti-Inflammatory Agents
  • Immunosuppressive Agents
  • Interleukin 1 Receptor Antagonist Protein
  • Receptors, Interleukin-1 Type I
  • Tubulin Modulators
  • Colchicine

Supplementary concepts

  • Chronic recurrent multifocal osteomyelitis
  • Deficiency of interleukin-1 receptor antagonist