{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:35:22Z","timestamp":1787841322012,"version":"build-2784847793"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,10,15]],"date-time":"2016-10-15T00:00:00Z","timestamp":1476489600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a periodic fever syndrome inherited in an autosomal dominant fashion. It stems from mutations in the\n                      <jats:italic toggle=\"yes\">TNFRSF1A<\/jats:italic>\n                      (accession number: NM_001065) gene expressing the receptor for tumor necrosis factor \u03b1. A patient with TRAPS may present with prolonged episodes of fever attacks, abdominal pain, severe myalgia, and painful erythema on the trunk or extremities. Here, we report an 8-year-old boy with febrile attacks occurring every 1\u20132 months and continuing for 3\u20134 days. The patient experienced 40 \u00b0C-fever attacks without chills. Approximately 80% of fever attacks were accompanied by abdominal manifestations. Direct sequencing analysis was used to assess the genomic DNA of the patient, and a heterozygous R426L mutation in exon 10 of the TNFRSF1A gene in an autosomal dominant inheritance fashion was identified. Further genetic analyses were also carried out on his parents. Due to the fact that the mutation was not inherited from the parents, it was likely that R426L was a\n                      <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                      and novel mutation in the\n                      <jats:italic toggle=\"yes\">TNFRSF1A<\/jats:italic>\n                      gene, which can trigger TRAPS or TRAPS-like symptoms.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1016\/j.hemonc.2016.09.001","type":"journal-article","created":{"date-parts":[[2016,10,19]],"date-time":"2016-10-19T18:17:19Z","timestamp":1476901039000},"page":"175-177","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["A novel TNFRSF1A gene mutation in a patient with tumor necrosis factor receptor-associated periodic syndrome"],"prefix":"10.4103","volume":"11","author":[{"given":"Alireza","family":"Khabazi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahafarin","family":"Maralani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sasan","family":"Andalib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebrahim","family":"Sakhinia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"10.1016\/j.hemonc.2016.09.001_b0005","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.1056\/NEJMra010200","article-title":"Hereditary periodic fever","volume":"345","author":"Drenth","year":"2001","journal-title":"New Engl J 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periodic syndrome phenotypes","volume":"48","author":"Aganna","year":"2003","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.hemonc.2016.09.001_b0055","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/art.23123","article-title":"Abnormal tumor necrosis factor receptor I cell surface expression and NF-\u03baB activation in tumor necrosis factor receptor-associated periodic syndrome","volume":"58","author":"Nedjai","year":"2008","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.hemonc.2016.09.001_b0060","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1002\/art.20955","article-title":"Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant","volume":"52","author":"Siebert","year":"2005","journal-title":"Arthritis Rheum"},{"key":"10.1016\/j.hemonc.2016.09.001_b0065","doi-asserted-by":"crossref","first-page":"9801","DOI":"10.1073\/pnas.0914118107","article-title":"Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome","volume":"107","author":"Simon","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.hemonc.2016.09.001_b0070","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1097\/00005792-200209000-00002","article-title":"The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder","volume":"81","author":"Hull","year":"2002","journal-title":"Medicine"}],"container-title":["Hematology\/Oncology and Stem Cell 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