Cryopyrin-Associated Periodic Syndrome

Cryopyrin-Associated Periodic Syndrome (CAPS) refers to a spectrum of rare, inherited autoinflammatory disorders caused by gain-of-function mutations in the *NLRP3* gene, which encodes the protein cryopyrin These mutations cause hyperactivation of the NLRP3 inflammasome, precipitating unrestrained, excessive secretion of the proinflammatory cytokine interleukin-1 beta (IL-1β) The condition predominantly presents in infancy or early childhood and encompasses a continuum of clinical severity, rang...

Cryopyrin-Associated Periodic Syndrome (CAPS) refers to a spectrum of rare, inherited autoinflammatory disorders caused by gain-of-function mutations in the *NLRP3* gene, which encodes the protein cryopyrin

These mutations cause hyperactivation of the NLRP3 inflammasome, precipitating unrestrained, excessive secretion of the proinflammatory cytokine interleukin-1 beta (IL-1β) Patients experience recurrent or persistent systemic inflammation characterized by periodic fevers, urticaria-like skin rashes, and arthralgias, with more severe manifestations including sensorineural hearing loss, chronic aseptic meningitis, ocular inflammation, skeletal deformities, and secondary amyloidosis

The condition predominantly presents in infancy or early childhood and encompasses a continuum of clinical severity, ranging from familial cold autoinflammatory syndrome to Muckle-Wells syndrome and neonatal-onset multisystem inflammatory disease

Patients experience recurrent or persistent systemic inflammation characterized by periodic fevers, urticaria-like skin rashes, and arthralgias, with more severe manifestations including sensorineural hearing loss, chronic aseptic meningitis, ocular inflammation, skeletal deformities, and secondary amyloidosis