{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:37:05Z","timestamp":1790775425835,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,11,28]],"date-time":"2016-11-28T00:00:00Z","timestamp":1480291200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"European Research Council","award":["ERC-2013-CoG 614578"],"award-info":[{"award-number":["ERC-2013-CoG 614578"]}]},{"name":"Instituto Salud Carlos III\u2212FEDER (R\u00edo Hortega)","award":["CM14\/00008, PI13\/00174"],"award-info":[{"award-number":["CM14\/00008, PI13\/00174"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatology"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Gain\u2010of\u2010function\n                      <jats:italic>NLRP3<\/jats:italic>\n                      mutations cause cryopyrin\u2010associated periodic syndrome (CAPS), with gene mosaicism playing a relevant role in the pathogenesis. This study was undertaken to characterize the genetic cause underlying late\u2010onset but otherwise typical CAPS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We studied a 64\u2010year\u2010old patient who presented with recurrent episodes of urticaria\u2010like rash, fever, conjunctivitis, and oligoarthritis at age 56 years. DNA was extracted from both unfractionated blood and isolated leukocyte and CD34+ subpopulations. Genetic studies were performed using both the Sanger method of DNA sequencing and next\u2010generation sequencing (NGS) methods. In vitro and ex vivo analyses were performed to determine the consequences that the presence of the variant have in the normal structure or function of the protein of the detected variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      NGS analyses revealed the novel p.Gln636Glu\n                      <jats:italic>NLRP3<\/jats:italic>\n                      variant in unfractionated blood, with an allele frequency (18.4%) compatible with gene mosaicism. Sanger sequence chromatograms revealed a small peak corresponding to the variant allele. Amplicon\u2010based deep sequencing revealed somatic\n                      <jats:italic>NLRP3<\/jats:italic>\n                      mosaicism restricted to myeloid cells (31.8% in monocytes, 24.6% in neutrophils, and 11.2% in circulating CD34+ common myeloid progenitor cells) and its complete absence in lymphoid cells. Functional analyses confirmed the gain\u2010of\u2010function behavior of the gene variant and hyperactivity of the NLRP3 inflammasome in the patient. Treatment with anakinra resulted in good control of the disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We identified the novel gain\u2010of\u2010function p.Gln636Glu\n                      <jats:italic>NLRP3<\/jats:italic>\n                      mutation, which was detected as a somatic mutation restricted to myeloid cells, as the cause of late\u2010onset but otherwise typical CAPS. Our results expand the diversity of CAPS toward milder phenotypes than previously reported, including those starting during adulthood.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/art.39770","type":"journal-article","created":{"date-parts":[[2016,6,6]],"date-time":"2016-06-06T09:02:52Z","timestamp":1465203772000},"page":"3035-3041","source":"Crossref","is-referenced-by-count":86,"title":["Brief Report: Late\u2010Onset Cryopyrin\u2010Associated Periodic Syndrome Due to Myeloid\u2010Restricted Somatic\n                    <i>NLRP3<\/i>\n                    Mosaicism"],"prefix":"10.1002","volume":"68","author":[{"given":"Anna","family":"Mensa\u2010Vilaro","sequence":"first","affiliation":[{"name":"Hospital Cl\u00ednic de Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Teresa Bosque","sequence":"additional","affiliation":[{"name":"Hospital Cl\u00ednico Universitario Lozano Blesa Zaragoza 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