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Colonoscopy, esophago-gastro-duodenoscopy, capsule endoscopy and contrast-enhanced CT showed no significant findings. Because she and her mother had sensorineural hearing loss, a diagnosis of cryopyrin-associated periodic syndrome was suspected. Genetic testing of the patient and her mother revealed a candidate germline variant of\n                    <jats:italic>NLRP3<\/jats:italic>\n                    . The patient was commenced on subcutaneous 150\u00a0mg canakinumab, a fully human monoclonal antibody targeting IL-1\u03b2, at a dose of 150\u00a0mg every 8 weeks, which resulted in the persistence of sensorineural hearing loss but led to the complete disappearance of her abdominal symptoms and periodic fever.\n                  <\/jats:p>","DOI":"10.1007\/s12328-026-02293-5","type":"journal-article","created":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T13:51:54Z","timestamp":1773755514000},"page":"480-484","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A case of cryopyrin-associated periodic syndrome presenting with abdominal symptoms due to a novel mutation NLRP3 p.Ile257Met"],"prefix":"10.1007","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-6765-1790","authenticated-orcid":false,"given":"Yo","family":"Komatsu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomofumi","family":"Oizumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun-ichi","family":"Yanai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumiko","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-ya","family":"Nishio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-ichi","family":"Usami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,17]]},"reference":[{"key":"2293_CR1","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1038\/ng756","volume":"29","author":"HM Hoffman","year":"2001","unstructured":"Hoffman HM, Mueller JL, Broide DH, et al. 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