Muckle–Wells syndrome

Muckle–Wells syndrome
Other namesUrticaria-deafness-amyloidosis syndrome (UDA),[1]
This condition is inherited in an autosomal dominant manner
SpecialtyClinical Immunology
Differential diagnosisBehçet's disease, Familial Mediterranean fever, TNF receptor associated periodic syndrome, Mevalonate kinase deficiency[2]

Muckle–Wells syndrome (MWS) is a rare autosomal dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a defect in the CIAS1 gene which creates the protein cryopyrin. MWS is closely related to two other syndromes, familial cold urticaria and neonatal onset multisystem inflammatory disease—in fact, all three are related to mutations in the same gene and subsumed under the term cryopyrin-associated periodic syndromes (CAPS).

  1. ^ ORPHANET – About rare diseases – About orphan drugs
  2. ^ Tran, Tu-Anh (2017). "Muckle-Wells syndrome: clinical perspectives". Open Access Rheumatology: Research and Reviews. 9: 123–129. doi:10.2147/OARRR.S114447. ISSN 1179-156X. PMC 5513904. PMID 28744167.
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