Adult onset cryopyrin-associated periodic syndrome due to germline missense mutation in NLRP3 in a previously healthy middle-aged woman
We report a case of adult-onset CAPS in a previously healthy woman, caused by a missense mutation (c.386A>G) in the <i>NLRP3</i> gene, who exhibited a remarkable response to anakinra treatment. Autoinflammatory diseases should be considered in patients presenting with fever, skin rashes, and systemic symptoms, regardless of age.
Authors
- Seung Yeon Pyeon (ORCID: https://orcid.org/0000-0001-8601-1701)
- Ju Yeon Kim
- Sheehyun Kim (ORCID: https://orcid.org/0000-0002-4347-4420)
- Won‐Woo Lee (ORCID: https://orcid.org/0000-0002-5347-9591)
- Sinyoung Cho (ORCID: https://orcid.org/0009-0000-7991-3715)
- Jeong Won Kim (ORCID: https://orcid.org/0000-0002-5881-9911)
- Jin Kyun Park (ORCID: https://orcid.org/0000-0003-2167-9393)
Institutions
- Seoul National University (KR)
- New Generation University College (ET)
- Seoul National University Hospital (KR)
- Sungae Hospital (KR)
- Gwangmyeong Mental Health Welfare Center (KR)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-08-25
- DOI
- https://doi.org/10.3389/fimmu.2025.1652177
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Research Foundation
- National Research Foundation of Korea
- Ministry of Science and ICT, South Korea