{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:20:31Z","timestamp":1760908831510},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>We report a man with lifelong urticaria, night sweats, arthralgia and lethargy. He had high levels of inflammatory markers and serum amyloid A, but no identifiable mutation in exon 3 of the NLRP3 (NOD-like receptor family, pyrin domain-1 containing 3) gene, and no relevant family history. We found marked production of functional interleukin (IL)-1 by the patient's monocytes at baseline and after stimulation with lipopolysaccharide. The patient made an immediate response to treatment with an IL-1\u03b2 receptor antagonist. We propose that this patient has Muckle\u2013Wells syndrome without deafness, occurring de novo. Functional screening for IL-1 production could aid diagnosis in future similar cases.<\/jats:p>","DOI":"10.1111\/ced.12186","type":"journal-article","created":{"date-parts":[[2013,7,25]],"date-time":"2013-07-25T18:09:11Z","timestamp":1374775751000},"page":"874-877","source":"Crossref","is-referenced-by-count":8,"title":["Muckle\u2013Wells syndrome without mutation in exon 3 of the NLRP3 gene, identified by evidence of excessive monocyte production of functional interleukin 1\u03b2 and rapid response to anakinra"],"prefix":"10.1093","volume":"38","author":[{"given":"R. A.","family":"Sabroe","sequence":"first","affiliation":[{"name":"Department of Dermatology Royal Hallamshire Hospital Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. A.","family":"Stokes","sequence":"additional","affiliation":[{"name":"Department of Infection and InflammationFaculty of Medicine, Dentistry and Health University of Sheffield Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. C.","family":"Parker","sequence":"additional","affiliation":[{"name":"Department of Infection and InflammationFaculty of Medicine, Dentistry and Health University of Sheffield Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Higgins","sequence":"additional","affiliation":[{"name":"Department of Infection and InflammationFaculty of Medicine, Dentistry and Health University of Sheffield Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. R.","family":"Prince","sequence":"additional","affiliation":[{"name":"Department of Infection and InflammationFaculty of Medicine, Dentistry and Health University of Sheffield Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Sabroe","sequence":"additional","affiliation":[{"name":"Department of Infection and InflammationFaculty of Medicine, Dentistry and Health University of Sheffield Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2013,12,1]]},"reference":[{"key":"2023012703533911600_ced12186-bib-0001","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1001\/archderm.144.3.392","article-title":"Autoinflammatory diseases: clinical and genetic advances","volume":"144","author":"Farasat","year":"2008","journal-title":"Arch 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