Anakinra for cryopyrin-associated periodic syndrome

Expert Rev Clin Immunol. 2014 Jan;10(1):7-18. doi: 10.1586/1744666X.2014.861325. Epub 2013 Nov 21.

Abstract

Cryopyrin-associated periodic syndrome (CAPS) is a very rare auto-inflammatory syndrome, which has recently served as a pure model of IL-1β-driven diseases. CAPS is caused by mutations into the NLRP3 gene that encodes crypoyrin, which serves as a receptor of the innate immunity that senses danger signals and pathogens. Constitutive activation of cryopyrin in CAPS leads to an excessive secretion of IL-1β. CAPS patients experience symptoms of systemic inflammation, intense fatigue and have poor quality of life. In the most severe forms, they may develop serious organ damage such as visual and hearing impairment, neurological deterioration and renal insufficiency. Anti-IL-1 drugs are effective in treating symptoms of almost all CAPS patients and have radically transformed their lives. We describe the history of the 'revival' of CAPS patients through anti-IL-1 treatments with a special focus on anakinra, the first drug used in cohorts with variable disease severity and number of patients.

Publication types

  • Review

MeSH terms

  • Antirheumatic Agents / therapeutic use*
  • Carrier Proteins / blood
  • Carrier Proteins / immunology
  • Cryopyrin-Associated Periodic Syndromes / blood
  • Cryopyrin-Associated Periodic Syndromes / drug therapy*
  • Cryopyrin-Associated Periodic Syndromes / immunology
  • Humans
  • Interleukin 1 Receptor Antagonist Protein / therapeutic use*
  • Interleukin-1beta / antagonists & inhibitors*
  • Interleukin-1beta / blood
  • Interleukin-1beta / immunology
  • Models, Biological*
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Severity of Illness Index

Substances

  • Antirheumatic Agents
  • Carrier Proteins
  • IL1B protein, human
  • Interleukin 1 Receptor Antagonist Protein
  • Interleukin-1beta
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human