Muckle-Wells syndrome

Muckle-Wells syndrome (MWS; MIM 191900) is a rare autoinflammatory disease that belongs to the group of cryopyrin-associated periodical syndromes (CAPS).

MWS manifests with recurrent urticaria in childhood that is accompanied by fever, arthralgia and general inflammation symptoms. Sensorineural deafness and in some cases renal amyloidosis (AA amyloidosis, deposits of serum amyloid A, acute-phase protein) develop as the disease progresses.

Inheritance

Autosomal dominant with variable expressivity

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Genes

The disorder is caused by mutations in NLRP3/CIAS1 (MIM 606416).

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