{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T19:07:43Z","timestamp":1791400063206,"version":"4.3.3"},"reference-count":14,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,8,26]],"date-time":"2015-08-26T00:00:00Z","timestamp":1440547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Intramural Research Programs of the National Human Genome Research Institute"},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute, NIH","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatology"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To identify the cause of disease in an adult patient presenting with recent\u2010onset fevers, chills, urticaria, fatigue, and profound myalgia, who was found to be negative for cryopyrin\u2010associated periodic syndrome (CAPS)\n                      <jats:italic>NLRP3<\/jats:italic>\n                      mutations by conventional Sanger DNA sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We performed whole\u2010exome sequencing and targeted deep sequencing using DNA from the patient's whole blood to identify a possible\n                      <jats:italic>NLRP3<\/jats:italic>\n                      somatic mutation. We then screened for this mutation in subcloned\n                      <jats:italic>NLRP3<\/jats:italic>\n                      amplicons from fibroblasts, buccal cells, granulocytes, negatively selected monocytes, and T and B lymphocytes and further confirmed the somatic mutation by targeted sequencing of exon 3.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified a previously reported CAPS\u2010associated mutation, p.Tyr570Cys, with a mutant allele frequency of 15% based on exome data. Targeted sequencing and subcloning of\n                      <jats:italic>NLRP3<\/jats:italic>\n                      amplicons confirmed the presence of the somatic mutation in whole blood at a ratio similar to the exome data. The mutant allele frequency was in the range of 13.3\u201316.8% in monocytes and 15.2\u201318% in granulocytes. Notably, this mutation was either absent or present at a very low frequency in B and T lymphocytes, in buccal cells, and in the patient's cultured fibroblasts.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our findings indicate the possibility of myeloid\u2010restricted somatic mosaicism in the pathogenesis of CAPS, underscoring the emerging role of massively parallel sequencing in clinical diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/art.39190","type":"journal-article","created":{"date-parts":[[2015,5,18]],"date-time":"2015-05-18T14:59:23Z","timestamp":1431961163000},"page":"2482-2486","source":"Crossref","is-referenced-by-count":104,"title":["Brief Report: Cryopyrin\u2010Associated Periodic Syndrome Caused by a Myeloid\u2010Restricted Somatic\n                    <i>NLRP3<\/i>\n                    Mutation"],"prefix":"10.1002","volume":"67","author":[{"given":"Qing","family":"Zhou","sequence":"first","affiliation":[{"name":"National Human Genome Research Institute, NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivona","family":"Aksentijevich","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geryl M.","family":"Wood","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avram D.","family":"Walts","sequence":"additional","affiliation":[{"name":"National Heart, Lung, and Blood Institute, NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrycja","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine F.","family":"Remmers","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel L.","family":"Kastner","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda K.","family":"Ombrello","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, NIH Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,8,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrrheum.2013.174"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.21404"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-06-094201"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.27342"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.30512"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/dnares\/dsr047"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-03-417881"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2012-202913"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2013-204361"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.38217"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2014.07.050"},{"key":"e_1_2_7_13_1","volume-title":"Current protocols in immunology","author":"Coligan JE","year":"1999"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.10688"},{"key":"e_1_2_7_15_1","article-title":"Somatic NOD2 mosaicism in Blau syndrome","author":"Inocencio J","year":"2015","journal-title":"J Allergy Clin Immunol"}],"container-title":["Arthritis &amp; Rheumatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fart.39190","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/acrjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/art.39190","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:54:37Z","timestamp":1759953277000},"score":1,"resource":{"primary":{"URL":"https:\/\/acrjournals.onlinelibrary.wiley.com\/doi\/10.1002\/art.39190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,26]]},"references-count":14,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["10.1002\/art.39190"],"URL":"https:\/\/doi.org\/10.1002\/art.39190","archive":["Portico"],"relation":{},"ISSN":["2326-5191","2326-5205"],"issn-type":[{"value":"2326-5191","type":"print"},{"value":"2326-5205","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8,26]]}}}