{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T05:07:19Z","timestamp":1790312839309,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,7,10]],"date-time":"2019-07-10T00:00:00Z","timestamp":1562716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Somatic mosaicism is to date an uncommon finding in genetic autoinflammatory syndromes such as Cryopyrin\u2010associated periodic syndrome, Blau syndrome, and TNF receptor\u2010associated periodic syndrome (TRAPS). However, somatic mosaicism may be particularly important in adult\u2010onset or atypical phenotypes of these conditions. Herein, we report a unique adult\u2010onset TRAPS patient presenting with intermittent daily fever for 3\u00a0weeks, rash, peritonitis, and lymphadenopathy, who was found with hematopoietic mosaicism involving different white blood cell populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patient's lymphocyte genomic DNA was initially analyzed by periodic fever seven\u2010gene next\u2010generation sequencing panel. Genomic DNAs extracted from patient's hair roots, buccal swab, and subpopulations of white blood cells were subsequently examined on the identified <jats:italic>TNFRSF1A<\/jats:italic> variant using Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A de novo mosaic missense variant, c.265 T&gt;C(p.Phe89Leu), in the <jats:italic>TNFRSF1A<\/jats:italic> gene was found in the patient's buccal swab, B cells, neutrophils, and NK cells but not detected in monocytes, T cells, and hair roots.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These data provide additional information about somatic mosaicism in autoinflammatory conditions and provide new insights regarding cellular players that are indispensable for the phenotypic expression of TRAPS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.791","type":"journal-article","created":{"date-parts":[[2019,7,10]],"date-time":"2019-07-10T13:53:23Z","timestamp":1562766803000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Somatic mosaicism in adult\u2010onset TNF receptor\u2010associated periodic syndrome (TRAPS)"],"prefix":"10.1002","volume":"7","author":[{"given":"Apostolos","family":"Kontzias","sequence":"first","affiliation":[{"name":"Department of Rheumatology Stony Brook University Hospital Stony Brook New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samaneh K.","family":"Zarabi","sequence":"additional","affiliation":[{"name":"Department of Pathology Stony Brook University Hospital Stony Brook New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassandra","family":"Calabrese","sequence":"additional","affiliation":[{"name":"Department of Rheumatology Cleveland Clinic Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Wang","sequence":"additional","affiliation":[{"name":"Genomics Core Lerner Research Institute Cleveland Clinic Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LuAnn","family":"Judis","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Cleveland Clinic Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"QingPing","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Rheumatology Stony Brook University Hospital Stony Brook New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0114-9822","authenticated-orcid":false,"given":"Yu\u2010Wei","family":"Cheng","sequence":"additional","affiliation":[{"name":"Genomics Core Lerner Research Institute Cleveland Clinic Cleveland Ohio"},{"name":"Department of Laboratory Medicine Cleveland Clinic Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200573"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.11215"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.21657"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200209000-00002"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/kel298"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.39960"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2013-204184"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-11-006783"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.39519"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellimm.2011.02.007"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0720-3"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2017.01410"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.39683"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2016-209335"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.791","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.791","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.791","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T07:02:59Z","timestamp":1692601379000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.791"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,10]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1002\/mgg3.791"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.791","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,7,10]]},"assertion":[{"value":"2019-03-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e791"}}