Cryopyrin-associated periodic syndrome

Also known as: CAPS; familial cold autoinflammatory syndrome; Muckle–Wells syndrome; NOMID/CINCA

Spectrum of NLRP3 inflammasomopathies with urticaria-like rash, fever and sensorineural hearing loss.

Medical specialty: Rheumatology
Subspecialty: Rheumatology / Autoinflammatory disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: NLRP3

Etiology & mechanism

Gain-of-function NLRP3 variants cause IL-1 overproduction.

Gene(s) involved (1)

NLRP3

Symptoms & signs (8)

amyloidosisarthralgiaaseptic meningitisbony overgrowth (nomid)feverpapilledemasensorineural hearing lossurticarial rash

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.