{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T12:40:05Z","timestamp":1773664805028,"version":"3.50.1"},"reference-count":38,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2007,7,30]],"date-time":"2007-07-30T00:00:00Z","timestamp":1185753600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatism"],"published-print":{"date-parts":[[2007,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Tumor necrosis factor receptor\u2013associated periodic syndrome (TRAPS) is an autosomal\u2010dominantly inherited autoinflammatory disorder caused by mutations in the <jats:italic>TNFRSF1A<\/jats:italic> gene. It is characterized by episodes of autoinflammation usually associated with fever, abdominal pain, myalgia, exanthema, arthralgia\/arthritis, and ocular involvement. We undertook this study to investigate the prevalence of TRAPS in patients with multiple sclerosis (MS) who reported, in addition to their neurologic symptoms, at least 2 other symptoms compatible with TRAPS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty\u2010five unrelated MS patients were prospectively screened for <jats:italic>TNFRSF1A<\/jats:italic> mutations. In addition, blood samples from 365 unrelated MS patients and 407 unrelated Caucasian controls were analyzed to determine the R92Q carrier frequency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Six of 25 adult MS patients (24%) with symptoms suggestive of TRAPS were found to carry the identical arginine\u2010to\u2010glutamine substitution at amino acid position 92 (R92Q or p.Arg121Gln) encoded by exon 4 of the <jats:italic>TNFRSF1A<\/jats:italic> gene. All R92Q heterozygotes had similar symptoms, including arthralgias\/arthritis, myalgias, urticarial rash, and severe fatigue, which began before the onset of MS. In 5 of the 6 patients, we could identify family members who had TRAPS symptoms and had inherited the identical mutation. The R92Q exchange was also detected in 17 of 365 unselected MS patients (4.66%) and in 12 of 407 controls (2.95%) (<jats:italic>P<\/jats:italic> = 0.112). Three patients were heterozygous carriers of <jats:italic>MEFV<\/jats:italic> variants, in 1 patient in combination with the R92Q mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Autoinflammatory syndromes and especially late\u2010onset TRAPS should be considered in MS patients who report symptoms such as arthralgias\/arthritis, myalgias, urticarial rash, and severe fatigue.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.22795","type":"journal-article","created":{"date-parts":[[2007,7,30]],"date-time":"2007-07-30T16:20:42Z","timestamp":1185812442000},"page":"2774-2783","source":"Crossref","is-referenced-by-count":47,"title":["Late\u2010onset tumor necrosis factor receptor\u2013associated periodic syndrome in multiple sclerosis patients carrying the <i>TNFRSF1A<\/i> R92Q mutation"],"prefix":"10.1002","volume":"56","author":[{"given":"Tania","family":"K\u00fcmpfel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa\u2010Ann","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heike","family":"R\u00fcbsamen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walter","family":"P\u00f6llmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Feneberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reinhard","family":"Hohlfeld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Lohse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,7,30]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80721-7"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399405009749"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.bor.0000198006.65697.5b"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2003.10.008"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.10429"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2005.09.014"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.0902-4441.2001.469umedoc.469.x"},{"key":"e_1_2_7_9_2","first-page":"175","article-title":"Myocarditis and sacroiliitis: 2 previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome","volume":"32","author":"Trost S","year":"2005","journal-title":"J Rheumatol"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.rhu.0000195106.34348.59"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfk098"},{"key":"e_1_2_7_12_2","unstructured":"Infevers database. 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