{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:42:15Z","timestamp":1787240535767,"version":"build-2736575974"},"reference-count":29,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T00:00:00Z","timestamp":1555372800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2019.00802","type":"journal-article","created":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T01:00:10Z","timestamp":1555376410000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease"],"prefix":"10.3389","volume":"10","author":[{"given":"\u0160\u00e1rka","family":"Fingerhutov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Fr\u00e1\u0148ov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Hlav\u00e1\u010dkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Jan\u010dov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leona","family":"Proch\u00e1zkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamila","family":"Ber\u00e1nkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark\u00e9ta","family":"Tesa\u0159ov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Honsov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavla","family":"Dole\u017ealov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2019,4,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1093\/rheumatology\/kel399","article-title":"A cryopyrin-associated periodic syndrome with joint destruction","volume":"46","author":"Lequerr\u00e9","year":"2007","journal-title":"Rheumatology"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-139","article-title":"Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry","volume":"8","author":"Tilson","year":"2013","journal-title":"Orphanet J Rare Dis."},{"key":"B3","doi-asserted-by":"publisher","first-page":"2043","DOI":"10.1136\/annrheumdis-2013-204991","article-title":"Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry","volume":"74","author":"Levy","year":"2015","journal-title":"Ann Rheum Dis"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1558","DOI":"10.1136\/annrheumdis-2017-212515","article-title":"Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study","volume":"77","author":"Chetrit","year":"2018","journal-title":"Ann Rheum Dis"},{"key":"B5","doi-asserted-by":"publisher","first-page":"824","DOI":"10.1002\/art.37810","article-title":"Hearing loss in muckle-wells syndrome","volume":"65","author":"Kuemmerle-Deschner","year":"2013","journal-title":"Arthritis Rheum"},{"key":"B6","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1177\/0194599811402296","article-title":"Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations","volume":"145","author":"Ahmadi","year":"2011","journal-title":"Otolaryngol Head Neck Surg."},{"key":"B7","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1002\/art.20033","article-title":"Spectrum of clinical features in Muckle-Wells syndrome and response to Anakinra","volume":"50","author":"Hawkins","year":"2004","journal-title":"Arthritis Rheum"},{"key":"B8","doi-asserted-by":"publisher","first-page":"120","DOI":"10.4103\/0022-3859.153107","article-title":"Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation","volume":"61","author":"Abdulla","year":"2015","journal-title":"J Postgrad Med"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/annrheumdis-2013-203666","article-title":"Validation of the auto-inflammatory diseases activity Index (AIDAI) for hereditary recurrent fever syndromes","volume":"73","author":"Piram","year":"2014","journal-title":"Ann Rheum Dis."},{"key":"B10","doi-asserted-by":"publisher","first-page":"821","DOI":"10.1136\/annrheumdis-2016-210092","article-title":"Development of the autoinflammatory disease damage index (ADDI)","volume":"76","author":"ter Haar","year":"2017","journal-title":"Ann Rheum Dis."},{"key":"B11","doi-asserted-by":"publisher","first-page":"e34977","DOI":"10.1371\/Journal.Pone.0034977","article-title":"The Q705k polymorphism in Nlrp3 is a gain-of-function alteration leading to excessive interleukin-1\u03b2 and Il-18 production","volume":"7","author":"Verna","year":"2012","journal-title":"PLoS ONE."},{"key":"B12","doi-asserted-by":"publisher","first-page":"907","DOI":"10.1590\/S0365-05962010000600022","article-title":"Four cases of muckle-wells syndrome within the same family","volume":"85","author":"Pereira","year":"2010","journal-title":"An Bras Dermatol"},{"key":"B13","first-page":"243","volume-title":"Hereditary Hearing Loss and Its Syndromes.","author":"Gorlin","year":"1995"},{"key":"B14","doi-asserted-by":"publisher","first-page":"R196","DOI":"10.1186\/Ar3526","article-title":"Nlrp3 E311k mutation in a large family with muckle-wells syndrome-description of a heterogeneous phenotype and response to treatment","volume":"13","author":"Kuemmerle-Deschner","year":"2011","journal-title":"Arthritis Res Ther."},{"key":"B15","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1093\/rheumatology\/kem318","article-title":"New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes","volume":"47","author":"Maksimovic","year":"2008","journal-title":"Rheumatology"},{"key":"B16","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/j.heares.2011.07.006","article-title":"Audiometric characteristics of a Dutch family with Muckle-Wells syndrome","volume":"282","author":"Weegerink","year":"2011","journal-title":"Hear Res."},{"key":"B17","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1007\/s10753-013-9752-6","article-title":"Muckle-Wells cryopyrinopathy: complex phenotyping and response to therapy in a new multiplex kindred","volume":"37","author":"Headley","year":"2014","journal-title":"Inflammation."},{"key":"B18","doi-asserted-by":"publisher","first-page":"1095","DOI":"10.1093\/rheumatology\/ket486","article-title":"Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation","volume":"53","author":"Alejandre","year":"2014","journal-title":"Rheumatology."},{"key":"B19","doi-asserted-by":"publisher","first-page":"3783","DOI":"10.1002\/art.27696","article-title":"Risk factors for severe Muckle-Wells syndrome","volume":"62","author":"Kuemmerle-Deschner","year":"2010","journal-title":"Arthritis Rheum."},{"key":"B20","doi-asserted-by":"publisher","first-page":"1116","DOI":"10.1002\/art.37827","article-title":"AA amyloidosis complicating the hereditary periodic fever syndromes","volume":"65","author":"Lane","year":"2013","journal-title":"Arthritis Rheum"},{"key":"B21","first-page":"747","article-title":"Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome","volume":"32","author":"Hentgen","year":"2005","journal-title":"J Rheumatol."},{"key":"B22","doi-asserted-by":"publisher","first-page":"e109","DOI":"10.1212\/NXI.0000000000000109","article-title":"Expanding spectrum of neurologic manifestations in patients with NLRP3 low-penetrance mutations","volume":"2","author":"Schuh","year":"2015","journal-title":"Neurol Neuroimmunol Neuroinflamm"},{"key":"B23","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1086\/340786","article-title":"New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes","volume":"70","author":"Dode","year":"2002","journal-title":"Am J Hum Genet."},{"key":"B24","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1038\/ng756","article-title":"Mutation of a new gene encoding a putative pyrin-like protein causes familial coldautoinflammatory syndrome and Muckle-Wells syndrome","volume":"29","author":"Hoffman","year":"2001","journal-title":"Nat Genet."},{"key":"B25","doi-asserted-by":"publisher","first-page":"1591","DOI":"10.1001\/archderm.142.12.1591","article-title":"Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1\/NALP3 mutations","volume":"142","author":"Leslie","year":"2006","journal-title":"Arch Dermatol."},{"key":"B26","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1002\/art.30149","article-title":"Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome","volume":"63","author":"Kuemmerle-Deschner","year":"2011","journal-title":"Arthritis Rheum."},{"key":"B27","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1136\/ard.2005.038091","article-title":"Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism","volume":"65","author":"Rynne","year":"2006","journal-title":"Ann Rheum Dis."},{"key":"B28","doi-asserted-by":"publisher","first-page":"1636","DOI":"10.1136\/annrheumdis-2015-207546","article-title":"Recommendations for the management of autoinflammatory diseases","volume":"74","author":"ter Haar","year":"2015","journal-title":"Ann Reum Dis."},{"key":"B29","doi-asserted-by":"publisher","first-page":"2445","DOI":"10.1002\/art.10509","article-title":"Association of mutations in the NALP3\/CIAS1\/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis","volume":"46","author":"Aganna","year":"2002","journal-title":"Arthritis Rheum."}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2019.00802\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T01:00:12Z","timestamp":1555376412000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2019.00802\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,16]]},"references-count":29,"alternative-id":["10.3389\/fimmu.2019.00802"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2019.00802","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,4,16]]},"article-number":"802"}}