Muckle-Wells syndrome

Muckle-Wells syndrome is a rare, autosomal dominant autoinflammatory disorder that represents an intermediate phenotypic severity within the spectrum of cryopyrin-associated periodic syndromes Pathophysiologically, it is driven by gain-of-function mutations in the *NLRP3* (*CIAS1*) gene, which causes hyperactivation of the NLRP3 inflammasome and uncontrolled overproduction of interleukin-1 beta Manifesting from infancy or early childhood, the disease is characterized by recurrent systemic inflam...

Muckle-Wells syndrome is a rare, autosomal dominant autoinflammatory disorder that represents an intermediate phenotypic severity within the spectrum of cryopyrin-associated periodic syndromes Pathophysiologically, it is driven by gain-of-function mutations in the *NLRP3* (*CIAS1*) gene, which causes hyperactivation of the NLRP3 inflammasome and uncontrolled overproduction of interleukin-1 beta Manifesting from infancy or early childhood, the disease is characterized by recurrent systemic inflam...

Muckle-Wells syndrome is a rare, autosomal dominant autoinflammatory disorder that represents an intermediate phenotypic severity within the spectrum of cryopyrin-associated periodic syndromes

Manifesting from infancy or early childhood, the disease is characterized by recurrent systemic inflammatory flares featuring urticaria-like rashes, fevers, arthralgias, and conjunctivitis Chronic systemic inflammation frequently leads to progressive complications in adolescence and adulthood, predominantly progressive sensorineural hearing loss and secondary systemic AA amyloidosis that often precipitates renal failure