Muckle–Wells syndrome

Also known as: Urticaria-deafness-amyloidosis syndrome

Cold-independent urticaria with deafness and amyloidosis.

Medical specialty: Immunology
Subspecialty: Immunology / Autoinflammatory disorders
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: NLRP3

Etiology & mechanism

NLRP3 gain-of-function.

Gene(s) involved (1)

NLRP3

Symptoms & signs (4)

amyloidosisfeversensorineural deafnessurticaria

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