Cryopyrin-associated periodic syndrome: an update on diagnosis and treatment response

Curr Allergy Asthma Rep. 2011 Feb;11(1):12-20. doi: 10.1007/s11882-010-0160-9.


Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary inflammatory disorder encompassing a continuum of three phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease. Distinguishing features include cutaneous, neurological, ophthalmologic, and rheumatologic manifestations. CAPS results from a gain-of-function mutation of the NLRP3 gene coding for cryopyrin, which forms intracellular protein complexes known as inflammasomes. Defects of the inflammasomes lead to overproduction of interleukin-1, resulting in inflammatory symptoms seen in CAPS. Diagnosis is often delayed and requires a thorough review of clinical symptoms. Remarkable advances in our understanding of the genetics and the molecular pathway that is responsible for the clinical phenotype of CAPS has led to the development of effective treatments. It also has become clear that the NLRP3 inflammasome plays a critical role in innate immune defense and therefore has wider implications for other inflammatory disease states.

MeSH terms

  • 4-Aminobenzoic Acid / therapeutic use
  • Anti-Inflammatory Agents / therapeutic use
  • Antibodies, Monoclonal / therapeutic use
  • Antibodies, Monoclonal, Humanized
  • Arthritis, Juvenile / diagnosis
  • Biopsy
  • Carrier Proteins / genetics
  • Carrier Proteins / immunology
  • Cryopyrin-Associated Periodic Syndromes / diagnosis*
  • Cryopyrin-Associated Periodic Syndromes / drug therapy*
  • Cryopyrin-Associated Periodic Syndromes / etiology
  • Cryopyrin-Associated Periodic Syndromes / pathology
  • Delayed Diagnosis
  • Diagnosis, Differential
  • Dipeptides / therapeutic use
  • Genetic Testing
  • Humans
  • Interleukin 1 Receptor Antagonist Protein / deficiency
  • Interleukin 1 Receptor Antagonist Protein / therapeutic use
  • Mutation
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Phenotype
  • Quality of Life
  • Recombinant Fusion Proteins / therapeutic use
  • Schnitzler Syndrome / diagnosis
  • Skin / pathology
  • Still's Disease, Adult-Onset / diagnosis
  • Treatment Outcome
  • para-Aminobenzoates


  • Anti-Inflammatory Agents
  • Antibodies, Monoclonal
  • Antibodies, Monoclonal, Humanized
  • Carrier Proteins
  • Dipeptides
  • Interleukin 1 Receptor Antagonist Protein
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Recombinant Fusion Proteins
  • para-Aminobenzoates
  • belnacasan
  • canakinumab
  • rilonacept
  • 4-Aminobenzoic Acid