{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T11:56:35Z","timestamp":1790250995534,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,7,19]],"date-time":"2016-07-19T00:00:00Z","timestamp":1468886400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autoinflammatory syndromes are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin\u2010associated periodic syndromes are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticaria syndrome, Muckle\u2013Wells syndrome (<jats:styled-content style=\"fixed-case\">MWS<\/jats:styled-content>), and neonatal\u2010onset multisystem inflammatory disease. <jats:styled-content style=\"fixed-case\">MWS<\/jats:styled-content> is characterized by a moderate phenotype with fever, rash, arthralgia, conjunctivitis, sensorineural deafness, and potentially life\u2010threatening amyloidosis. We report a 5\u2010year\u2010old girl with <jats:styled-content style=\"fixed-case\">MWS<\/jats:styled-content> that manifested as a recurrent skin rash without fever episodes or intracranial hypertension with papilledema. Genetic analysis revealed a T348M mutation of the <jats:italic><jats:styled-content style=\"fixed-case\">NLRPR<\/jats:styled-content> 3<\/jats:italic> gene in the patient and her mother. She was successfully treated with the interleukin\u20101\u03b2 antagonist receptor anakinra.<\/jats:p>","DOI":"10.1111\/pde.12905","type":"journal-article","created":{"date-parts":[[2016,7,20]],"date-time":"2016-07-20T01:27:30Z","timestamp":1468978050000},"source":"Crossref","is-referenced-by-count":20,"title":["Muckle\u2013Wells Syndrome: A Case Report with an <i><scp>NLRP<\/scp>3<\/i> T348M Mutation"],"prefix":"10.1111","volume":"33","author":[{"given":"Elena","family":"Naz Villalba","sequence":"first","affiliation":[{"name":"Department of Dermatology Hospital Universitario Fundaci\u00f3n Alcorc\u00f3n Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique","family":"Gomez de la Fuente","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario Fundaci\u00f3n Alcorc\u00f3n Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolores","family":"Caro 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Estebaranz","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Universitario Fundaci\u00f3n Alcorc\u00f3n Madrid 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deafness, and amyloidosis: a new heredo\u2010familial syndrome","volume":"31","author":"Muckle TJ","year":"1962","journal-title":"Q J Med"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0609.2003.00109.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000068883"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200306193482523"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.20033"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.30149"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/2050-6511-14-40"},{"key":"e_1_2_5_19_1","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1111\/j.1525-1470.2012.01812.x","article-title":"Cryopirin\u2010associated periodic syndrome","volume":"31","author":"Posh C","year":"2014","journal-title":"Pediatric 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