" /> Muckle-wells syndrome - CISMeF





Preferred Label : Muckle-wells syndrome;

Symbol : MWS;

CISMeF acronym : CAPS2; MWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Urticaria-deafness-amyloidosis syndrome; Uda syndrome; CAPS2; Cryopyrin-associated periodic syndrome 2;

Description : Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002). See also familial cold-induced autoinflammatory syndrome-1 (FCAS1,;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NLR family, pyrin-domain containing 3 gene (NLRP3, 606416.0004);

Laboratory abnormalities : Polymorphonuclear leukocytosis, episodic; Increased erythrocyte sedimentation rate, episodic; Increased IL6, episodic;

Prefixed ID : #191900;

Détails


Vous pouvez consulter :


Nous contacter.
26/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.