{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T10:54:22Z","timestamp":1791888862291,"version":"4.3.4"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,2,5]],"date-time":"2004-02-05T00:00:00Z","timestamp":1075939200000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatism"],"published-print":{"date-parts":[[2004,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Mutations in the\n                      <jats:italic>NALP3\/CIAS1\/PYPAF1<\/jats:italic>\n                      gene are associated with the autoinflammatory diseases Muckle\u2010Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal\u2010onset multisystem inflammatory disease (NOMID), which is also known as chronic infantile neurologic, cutaneous, articular (CINCA) syndrome. Molecular studies suggest that\n                      <jats:italic>NALP3<\/jats:italic>\n                      is involved in the processing of interleukin\u20101\u03b2 (IL\u20101\u03b2), prompting us to investigate whether IL\u20101 blockade may be therapeutic in patients with MWS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We reviewed the clinical features of 3 members of a family, all of whom had MWS associated with the\n                      <jats:italic>NALP3<\/jats:italic>\n                      variant V200M (also designated V198M), and evaluated the response of their inflammatory disease to treatment with the recombinant human IL\u20101 receptor antagonist anakinra. The subjects kept a diary of symptoms and underwent fortnightly clinical and laboratory assessments, including measurement of the serum amyloid A protein concentration.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Each subject had fever, rashes, arthralgia, conjunctivitis, sensorineural deafness, and an intense acute\u2010phase response characteristic of MWS. However, additional features were identified, including exacerbation of their disease by cold and neurologic manifestations, that have hitherto been described only in FCAS and NOMID, respectively. Clinical and serologic evidence of active inflammatory disease resolved rapidly and completely during treatment with anakinra.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The remarkable response of MWS to anakinra suggests that IL\u20101\u03b2 has a fundamental role in the pathogenesis of inflammation associated with mutations in the\n                      <jats:italic>NALP3<\/jats:italic>\n                      gene, and supports study of IL\u20101 inhibition in patients with NOMID\/CINCA syndrome or FCAS. The clinical features of the various syndromes associated with mutations in the\n                      <jats:italic>NALP3<\/jats:italic>\n                      gene may overlap to a greater extent than has previously been recognized.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/art.20033","type":"journal-article","created":{"date-parts":[[2004,2,9]],"date-time":"2004-02-09T13:29:18Z","timestamp":1076333358000},"page":"607-612","source":"Crossref","is-referenced-by-count":442,"title":["Spectrum of clinical features in Muckle\u2010Wells syndrome and response to anakinra"],"prefix":"10.1002","volume":"50","author":[{"given":"Philip N.","family":"Hawkins","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen J.","family":"Lachmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebun","family":"Aganna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael F.","family":"McDermott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,2,5]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng756"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/340786"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.10509"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/341357"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.3109\/03009748709102523"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.10688"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/00002281-200301000-00011"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(01)00056-2"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1019"},{"issue":"26","key":"e_1_2_5_11_2","first-page":"S45","article-title":"Fire and ICE: the role of pyrin domain\u2010containing proteins in inflammation and apoptosis","volume":"4","author":"Gumucio DL","year":"2002","journal-title":"Clin Exp Rheumatol"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200306193482523"},{"key":"e_1_2_5_13_2","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1080\/00365519909168324","article-title":"A new method of measuring C\u2010reactive protein, with a low limit of detection, suitable for risk assessment of coronary heart disease","volume":"230","author":"Eda S","year":"1999","journal-title":"Scand J Clin Lab Invest"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1177\/000456329803500607"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/343336a0"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.10578"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/1529-0131(199812)41:12<2196::AID-ART15>3.0.CO;2-2"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/40.7.1284"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)05252-1"}],"container-title":["Arthritis &amp; Rheumatism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fart.20033","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/art.20033","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T10:50:24Z","timestamp":1696935024000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/art.20033"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["10.1002\/art.20033"],"URL":"https:\/\/doi.org\/10.1002\/art.20033","archive":["Portico"],"relation":{},"ISSN":["0004-3591","1529-0131"],"issn-type":[{"value":"0004-3591","type":"print"},{"value":"1529-0131","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2]]}}}