Adult onset cryopyrin-associated periodic syndrome due to germline missense mutation in NLRP3 in a previously healthy middle-aged woman

Adult onset cryopyrin-associated periodic syndrome due to germline missense mutation in NLRP3 in a previously healthy middle-aged woman

BackgroundCryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory disease caused by a gain-of-function mutation in the NLRP3 gene, which regulates inflammasome-mediated interleukin-1β (IL-1β) production. This leads to recurrent episodes of fever, rash, and arthritis, typically beginning...

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Bibliographic Details
Main Authors: Sung Ik Cho, Sheehyun Kim, Ju Yeon Kim, Jeong-Won Kim, Sujin Pyeon, Won-Woo Lee, Jin Kyun Park
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Immunology
Subjects:
autoinflammatory diseases
cryopyrin-associated periodic syndrome (CAPS)
anakinra
adult onset
mutation
IL-1β
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2025.1652177/full
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https://www.frontiersin.org/articles/10.3389/fimmu.2025.1652177/full

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