{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:21:15Z","timestamp":1760955675642},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,12,19]],"date-time":"2016-12-19T00:00:00Z","timestamp":1482105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004336","name":"Novartis","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004336","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tumor necrosis factor receptor\u2010associated periodic syndrome (<jats:styled-content style=\"fixed-case\">TRAPS<\/jats:styled-content>) is a dominantly inherited autoinflammatory disease caused by <jats:italic><jats:styled-content style=\"fixed-case\">TNFRSF<\/jats:styled-content>1A<\/jats:italic> mutations. Patients with <jats:styled-content style=\"fixed-case\">TRAPS<\/jats:styled-content> suffer from recurrent, long episodes with fever, arthralgia\/arthritis, migratory myalgias, abdominal pain, serositis, conjunctivitis and migratory erythematous skin rash. More than 70 different <jats:italic><jats:styled-content style=\"fixed-case\">TNFRSF<\/jats:styled-content>1A<\/jats:italic> mutations have been reported to date, and as consequence of its genetic heterogeneity, <jats:styled-content style=\"fixed-case\">TRAPS<\/jats:styled-content> shows a variable phenotypic expression. Among <jats:italic><jats:styled-content style=\"fixed-case\">TNFRSF<\/jats:styled-content>1A<\/jats:italic> variants, the low\u2010penetrance p.Arg92Gln variant represents the most commonly detected, and is typically associated with mild and short episodes, with a higher tendency to spontaneous resolution, and less familial association than the structural <jats:italic><jats:styled-content style=\"fixed-case\">TNFRSF<\/jats:styled-content>1A<\/jats:italic> mutations. Pericardial involvement is rare but a well\u2010known clinical feature of <jats:styled-content style=\"fixed-case\">TRAPS<\/jats:styled-content>, with a significant increased rate in those adult patients in whom the onset of the disease occurred during adulthood. Moreover, idiopathic recurrent acute pericarditis has also been occasionally described as a clinical presentation of <jats:styled-content style=\"fixed-case\">TRAPS<\/jats:styled-content>. However, cardiac tamponade is an unusual initial manifestation of the disease. Herein, we present a brief review based on the description of the exceptional case of a 35\u2010year\u2010old female patient who presented with recurrent pericardial effusions and cardiac tamponade. <jats:italic><jats:styled-content style=\"fixed-case\">TNFRSF<\/jats:styled-content>1A<\/jats:italic> analyses showed a heterozygous genotype for the low\u2010penetrance p.Arg92Gln variant. Due to disease severity, the patient was treated with the anti\u2010interleukin\u20101 drug anakinra, showing a prompt resolution of her clinical manifestations.<\/jats:p>","DOI":"10.1111\/1756-185x.13029","type":"journal-article","created":{"date-parts":[[2016,12,19]],"date-time":"2016-12-19T07:20:50Z","timestamp":1482132050000},"page":"510-514","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Efficacy of anakinra in an adult patient with recurrent pericarditis and cardiac tamponade as initial manifestations of tumor necrosis factor receptor\u2010associated periodic syndrome due to the R92Q <i><scp>TNFRSF<\/scp>1A<\/i> variant"],"prefix":"10.1111","volume":"20","author":[{"given":"Daniel","family":"Camprub\u00ed","sequence":"first","affiliation":[{"name":"Department of Internal Medicine Bellvitge University Hospital\u2010IDIBELL L'Hospitalet de Llobregat Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Mitjavila","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Bellvitge University Hospital\u2010IDIBELL L'Hospitalet de Llobregat Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan I.","family":"Arostegui","sequence":"additional","affiliation":[{"name":"Department of Immunology Hospital Cl\u00ednic\u2010IDIBAPS Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Corbella","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Bellvitge University Hospital\u2010IDIBELL L'Hospitalet de Llobregat Spain"},{"name":"Faculty of Medicine and Health Sciences International University of Catalonia Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,12,19]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2012.07.020"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2013-204184"},{"key":"e_1_2_5_4_1","first-page":"372","article-title":"Autoinflammatory syndromes","volume":"1","author":"Gattorno M","year":"2013","journal-title":"Textbook Rheum Dis"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2014-206580"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/kep140"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semarthrit.2013.12.002"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200209000-00002"},{"key":"e_1_2_5_9_1","first-page":"52","article-title":"Tumor Necrosis Factor receptor\u2010associated periodic syndrome, a rare cause of fever of unknown origin","volume":"73","author":"O\u2010Charoen P","year":"2014","journal-title":"Hawaii J Med Public Health"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00392-012-0422-8"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/imj.12163"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/039463200902200421"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.23475"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2011-201268"}],"container-title":["International Journal of Rheumatic Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1756-185X.13029","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1756-185X.13029","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1756-185X.13029","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T20:47:46Z","timestamp":1696366066000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1756-185X.13029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,12,19]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,4]]}},"alternative-id":["10.1111\/1756-185X.13029"],"URL":"https:\/\/doi.org\/10.1111\/1756-185x.13029","archive":["Portico"],"relation":{},"ISSN":["1756-1841","1756-185X"],"issn-type":[{"value":"1756-1841","type":"print"},{"value":"1756-185X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,12,19]]},"assertion":[{"value":"2016-12-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}