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Muckle-Wells syndrome : ウィキペディア英語版
Muckle–Wells syndrome

Muckle–Wells syndrome (MWS), also known as (UDA),〔(ORPHANET - About rare diseases - About orphan drugs )〕 is a rare autosomal dominant disease which causes sensorineural deafness, 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).
==Sign and symptoms==

*Sensorineural deafness
*Recurrent urticaria (hives)
*Fevers
*Chills
*Arthralgia (painful joints)

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Muckle–Wells syndrome」の詳細全文を読む



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