{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:03:54Z","timestamp":1790773434524,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,3,31]],"date-time":"2011-03-31T00:00:00Z","timestamp":1301529600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["aao-hnsfjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Otolaryngol.--head neck surg."],"published-print":{"date-parts":[[2011,8]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Cryopyrin\u2010associated periodic syndromes (CAPS) represent a spectrum of <jats:italic>CIAS1<\/jats:italic> gene\u2010mediated autoinflammatory diseases characterized by recurrent systemic inflammation. The clinical spectrum of CAPS varies from mild to severe and includes the syndromes historically described as familial cold autoinflammatory syndrome (FCAS), Muckle\u2010Wells syndrome (MWS), and neonatal\u2010onset multisystem inflammatory disease (NOMID). This article presents the largest cohort of patients with CAPS. The objective is to describe the pathogenesis, otolaryngologic, and audiologic manifestations of CAPS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design<\/jats:title><jats:p>Prospective (2003\u20102009).<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>National Institutes of Health.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and Methods<\/jats:title><jats:p>Fifty\u2010seven patients with a diagnosis of CAPS were identified (31\u00a0NOMID, 11\u00a0NOMID\/MWS, 9\u00a0MWS, and 6 FCAS). Comprehensive data regarding clinical manifestations, audiologic phenotype, and fluid attenuation inversion recovery MRI (FLAIR\u2010MRI) of the brain and inner ear were obtained.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Complete audiologic data obtained on 70% of ears revealed conductive hearing loss in 4 (11%) NOMID ears and mixed hearing loss in 5 (13%) NOMID and 2 (14%) NOMID\/MWS ears. Sensorineural hearing loss (SNHL), worse in higher frequencies, was the most common type of hearing loss and was present in 23 (61%) NOMID, 10 (71%) NOMID\/MWS, and 4 (33%) MWS ears. All of the patients with FCAS had normal hearing except 2, who had SNHL from 4 to 8\u00a0kHz. On FLAIR\u2010MRI sequence, cochlear enhancement was noted in 26 of 29 (90%) NOMID, 6 of 11 (55%) NOMID\/MWS, 3 of 9 (33%) MWS, and 1 of 6 (17%) FCAS patients and was significantly associated with the presence of hearing loss. Maxillary sinus hypoplasia and mucosal thickening were found in 39% and 86% of the cohort, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>CIAS1<\/jats:italic> pathway\u2013mediated CAPS is associated with unregulated autoinflammation mediated by interleukin\u20101\u00a0in the cochlea and hearing loss. Timely diagnosis is crucial to initiate early treatment with interleukin\u20101 receptor antagonists.<\/jats:p><\/jats:sec>","DOI":"10.1177\/0194599811402296","type":"journal-article","created":{"date-parts":[[2011,4,1]],"date-time":"2011-04-01T00:13:42Z","timestamp":1301616822000},"page":"295-302","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":83,"title":["Cryopyrin\u2010Associated Periodic Syndromes"],"prefix":"10.1002","volume":"145","author":[{"given":"Neda","family":"Ahmadi","sequence":"first","affiliation":[{"name":"Georgetown University Hospital Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen C.","family":"Brewer","sequence":"additional","affiliation":[{"name":"National Institute on Deafness and Other Communicative Disorders National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Zalewski","sequence":"additional","affiliation":[{"name":"National Institute on Deafness and Other Communicative Disorders National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly A.","family":"King","sequence":"additional","affiliation":[{"name":"National Institute on Deafness and Other Communicative Disorders National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"Butman","sequence":"additional","affiliation":[{"name":"NIH Clinical Center National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Plass","sequence":"additional","affiliation":[{"name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cailin","family":"Henderson","sequence":"additional","affiliation":[{"name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphaela","family":"Goldbach\u2010Mansky","sequence":"additional","affiliation":[{"name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Jeffrey","family":"Kim","sequence":"additional","affiliation":[{"name":"Georgetown University Hospital Washington DC USA"},{"name":"National Institute on Deafness and Other Communicative Disorders National Institutes of Health Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,3,31]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/BOR.0b013e3282f1bf4b"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/bor.0000174210.78449.6b"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncprheum0874"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/00002281-200301000-00011"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.10688"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055137"},{"key":"e_1_2_8_8_2","first-page":"413","article-title":"The inherited autoinflammatory syndrome: a 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