{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T17:58:50Z","timestamp":1759341530092},"reference-count":3,"publisher":"Walter de Gruyter GmbH","issue":"3","license":[{"start":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T00:00:00Z","timestamp":1472688000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p>TRAPS is a very rare disease with an estimated prevalence of about one per million.<\/jats:p>\n<jats:p>We present a 53-year-old patient from Bulgaria.<\/jats:p>\n<jats:p>The clinical features of the disease are periodic fever, arthralgia, myalgia, rash, abdominal pain and hepatosplenomegaly. Laboratory studies yield leukocytosis, highly elevated levels of CRP, significantly high ESR. Secondary amyloidosis AA is determined.<\/jats:p>\n<jats:p>The genetic analysis found a heterozygous T&gt;C nucleotide substance (c.250T&gt;C) in exon 3 of TNFRSF1A gene which is associated with \u0422RAPS (MIM*191190).<\/jats:p>\n<jats:p>The presented case of genetic changes and clinical manifestations in the autoinflammatory syndrome TRAPS due to a mutation in the gene encoding the receptor for tumour necrosis factor alpha (TNFRSF1A) is the first documented case of the disease reported in Bulgaria.<\/jats:p>","DOI":"10.1515\/folmed-2016-0025","type":"journal-article","created":{"date-parts":[[2016,10,19]],"date-time":"2016-10-19T10:02:12Z","timestamp":1476871332000},"page":"211-214","source":"Crossref","is-referenced-by-count":2,"title":["First Case of TNF-Receptor-Associated Autoinflammatory Syndrome (TRAPS) in Bulgaria"],"prefix":"10.1515","volume":"58","author":[{"given":"Panayot T.","family":"Solakov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref11","first-page":"1","article-title":"Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever FMF and tumour necrosis factor receptor syndrome TRAPS genes","volume":"24","author":"Glementi","year":"2013","journal-title":"Clin"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"11","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":"ref01","doi-asserted-by":"crossref","first-page":"2160","DOI":"10.1136\/annrheumdis-2013-204184","article-title":"The phenotype of TNF receptor - associated autoinflammatory syndrome TRAPS at presentation : a series of cases from the Eurofever \/ EUROTRAPS international registry","volume":"158","author":"Lachmann","year":"2014","journal-title":"Ann Dis"}],"container-title":["Folia Medica"],"original-title":[],"link":[{"URL":"http:\/\/content.sciendo.com\/view\/journals\/folmed\/58\/3\/article-p211.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/view\/j\/folmed.2016.58.issue-3\/folmed-2016-0025\/folmed-2016-0025.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,21]],"date-time":"2020-10-21T09:06:16Z","timestamp":1603271176000},"score":1,"resource":{"primary":{"URL":"http:\/\/archive.sciendo.com\/FOLMED\/folmed.2016.58.issue-3\/folmed-2016-0025\/folmed-2016-0025.pdf"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,1]]},"references-count":3,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.1515\/folmed-2016-0025","relation":{},"ISSN":["1314-2143"],"issn-type":[{"value":"1314-2143","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,1]]}}}