{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T14:09:47Z","timestamp":1777126187532,"version":"3.51.4"},"reference-count":20,"publisher":"BMJ","issue":"3","license":[{"start":{"date-parts":[[2021,10,31]],"date-time":"2021-10-31T00:00:00Z","timestamp":1635638400000},"content-version":"unspecified","delay-in-days":30,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"IDEX"},{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"crossref","award":["ANR-10-IDEX-0002"],"award-info":[{"award-number":["ANR-10-IDEX-0002"]}],"id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"crossref","award":["UMR_S 1109"],"award-info":[{"award-number":["UMR_S 1109"]}],"id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"name":"MSD"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["RMD Open"],"accepted":{"date-parts":[[2021,10,8]]},"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To explore at the molecular level the phenotype of a patient suffering an autoinflammatory syndrome which was diagnosed as familial cold autoinflammatory syndrome type 2 (FCAS-2). To explore the functions of Nlrp12 in inflammation using mouse models.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Whole exome sequencing and Nlrp12 targeted resequencing were performed on DNA isolated from the patient and her family members. In vivo and ex vivo models of inflammation (urate crystals-dependent acute joint inflammation and urate crystals-induced peritonitis) were analysed in Nlrp12-deficient and Nlrp12-competent mice.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A rare missense NLRP12 variant (c.857C&gt;T, p.P286L) was identified in the patient and her healthy relatives. Nlrp12-deficient mice exhibit reduced systemic inflammation and neutrophilic infiltration.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Nlrp12 mediates proinflammatory functions in mice. In humans, the identification of Nlrp12 variants must be cautiously interpreted depending on clinical and paraclinical data to diagnose FCAS-2.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/rmdopen-2021-001824","type":"journal-article","created":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T13:17:36Z","timestamp":1635772656000},"page":"e001824","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":15,"title":["Contrasting role of <i>NLRP12<\/i> in autoinflammation: evidence from a case report and mouse models"],"prefix":"10.1136","volume":"7","author":[{"given":"Dan","family":"L\u00e9vy","sequence":"first","affiliation":[{"name":"Explorations Fonctionnelles Musculaires, Service de Physiologie, H\u00f4pitaux Universitaires de Strasbourg, Strasbourg Cedex, Strasbourg, France"},{"name":"Universit\u00e9 de Strasbourg, Facult\u00e9 de M\u00e9decine, Strasbourg, France"},{"name":"Department of Rheumatology, Hopitaux universitaires de Strasbourg, Strasbourg, France"},{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Mariotte","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Strasbourg, Facult\u00e9 de M\u00e9decine, Strasbourg, France"},{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France"},{"name":"INSERM UMR_S1109, Strasbourg, Alsace-Champagne-Ardenne-, France"},{"name":"Institut th\u00e9matique interdisciplinaire (ITI) de M\u00e9decine de Pr\u00e9cision de Strasbourg, Transplantex NG, Facult\u00e9 de M\u00e9decine, University of Strasbourg, Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurore","family":"DeCauwer","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Strasbourg, Facult\u00e9 de M\u00e9decine, Strasbourg, France"},{"name":"INSERM UMR_S1109, Strasbourg, Alsace-Champagne-Ardenne-, France"},{"name":"Institut th\u00e9matique interdisciplinaire (ITI) de M\u00e9decine de Pr\u00e9cision de Strasbourg, Transplantex NG, Facult\u00e9 de M\u00e9decine, University of Strasbourg, Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecile","family":"Macquin","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Strasbourg, Facult\u00e9 de M\u00e9decine, Strasbourg, France"},{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France"},{"name":"INSERM UMR_S1109, Strasbourg, Alsace-Champagne-Ardenne-, France"},{"name":"Institut th\u00e9matique interdisciplinaire (ITI) de M\u00e9decine de Pr\u00e9cision de Strasbourg, Transplantex NG, Facult\u00e9 de M\u00e9decine, University of Strasbourg, Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ang\u00e9lique","family":"Pichot","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Strasbourg, Facult\u00e9 de M\u00e9decine, Strasbourg, France"},{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, Strasbourg, France"},{"name":"INSERM UMR_S1109, Strasbourg, Alsace-Champagne-Ardenne-, France"},{"name":"Institut th\u00e9matique interdisciplinaire (ITI) de M\u00e9decine de Pr\u00e9cision de Strasbourg, Transplantex NG, Facult\u00e9 de M\u00e9decine, University of Strasbourg, Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Molitor","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Strasbourg, Facult\u00e9 de M\u00e9decine, Strasbourg, France"},{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), Universit\u00e9 de Strasbourg, 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