title: [CAPS: cryopyrin-associated periodic syndrome].
abstract: Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of NLRP3 gene. CAPS consists of three phenotypically similar but distinct syndromes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Among them, FCAS shows the mildest phenotype while CINCA is the severest. Common symptoms include sporadic or cold-induced nonpruritic urticarial rash and fever. Severe cases suffers from deafness, meningitis, articular contracture and secondary amyloidosis. Gain-of-function mutations of NLRP3 causes excessive production of a potent proinflammatory cytokine IL-1β, thereby evokes autoinflammatory symptoms of CAPS. Recent advances of anti-IL-1 therapy dramatically improved the prognosis of CAPS. Currently three anti-IL-1 medicines are available, and all of them significantly improved clinical symptoms of CAPS patients. Although long-term observation is still needed, the molecular-targeted therapy has opened up a new opportunity for managing CAPS.
authors: Center for iPS cell research and application, Kyoto university, Japan.
authors: Megumu K
authors: MK
authors: Saito
mesh_terms: D000911:Antibodies, Monoclonal / Q000627:therapeutic use; D061067:Antibodies, Monoclonal, Humanized; D002352:Carrier Proteins / Q000235:genetics* / Q000502:physiology; D015195:Drug Design; D056660:Hereditary Autoinflammatory Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D053583:Interleukin-1beta / Q000378:metabolism; D058990:Molecular Targeted Therapy; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D011993:Recombinant Fusion Proteins / Q000627:therapeutic use
chemical_list: D000911:Antibodies, Monoclonal; D061067:Antibodies, Monoclonal, Humanized; D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D053583:Interleukin-1beta; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D011993:Recombinant Fusion Proteins; C541220:canakinumab; C531377:rilonacept