{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:09:51Z","timestamp":1787314191293,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,2,16]],"date-time":"2023-02-16T00:00:00Z","timestamp":1676505600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100011033","name":"Agencia Estatal de Investigaci\u00f3n","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011033","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007801","name":"Fundaci\u00f3n S\u00e9neca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007801","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014440","name":"Ministerio de Ciencia, Innovaci\u00f3n y Universidades","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust J Dermatology"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Monoallelic\n                    <jats:italic>NLRC4 gain\u2010of\u2010function<\/jats:italic>\n                    variants cause an inflammasomopathy with diverse clinical forms including infantile enterocolitis, recurrent macrophage activation syndrome, cold\u2010induced urticaria\u2010like lesions (or familial\u2010cold autoinflammatory syndrome, FCAS4), and painful subcutaneous nodules. Here, we identified a large family with six consecutive generations affected. Genetic analyses detected the heterozygous p.Ser445Pro\n                    <jats:italic>NLRC4<\/jats:italic>\n                    variant in three patients, which has been previously reported in a Dutch family with FCAS4. We aimed to describe the clinicopathological features and the functional consequences of the detected\n                    <jats:italic>NLRC4<\/jats:italic>\n                    variant. Patients presented an early\u2010onset (3\u00a0months\u20136\u2009years) inflammatory disease characterized by recurrent panniculitis, fever and arthralgia. Histopathological examination showed perivascular and interstitial lymphohistiocytic infiltrates in the dermis and mixed panniculitis. Functional analysis supported the conclusion that the p.Ser445Pro\n                    <jats:italic>NLRC4<\/jats:italic>\n                    variant leads to a constitutive activation of NLRC4\u2010inflammasome and increased plasma levels of IL\u201018. Prompt recognition of early\u2010onset panniculitis through clinicopathological examination and laboratory biomarkers may allow targeted therapies.\n                  <\/jats:p>","DOI":"10.1111\/ajd.14005","type":"journal-article","created":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T00:09:10Z","timestamp":1676592550000},"page":"260-267","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<scp>Early\u2010onset<\/scp>\n                    recurrent panniculitis as a phenotype of\n                    <scp>NLRC4<\/scp>\n                    \u2010associated autoinflammatory syndrome: Characterization of pathogenicity of the p.\n                    <scp>Ser445Pro<\/scp>\n                    <i>NLRC4<\/i>\n                    variant"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7235-528X","authenticated-orcid":false,"given":"Javier","family":"Gil\u2010Lianes","sequence":"first","affiliation":[{"name":"Department of Dermatology Hospital Cl\u00ednic  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Gariup","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Cl\u00ednic  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Iranzo\u2010Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Cl\u00ednic  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Mensa\u2010Vilar\u00f3","sequence":"additional","affiliation":[{"name":"Department of Immunology Hospital Cl\u00ednic  Barcelona Spain"},{"name":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Pe\u00f1\u00edn\u2010Franch","sequence":"additional","affiliation":[{"name":"Molecular Inflammation Group Biomedical Research Institute of Murcia (IMIB)  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Hurtado\u2010Navarro","sequence":"additional","affiliation":[{"name":"Molecular Inflammation Group Biomedical Research Institute of Murcia (IMIB)  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Pelegrin","sequence":"additional","affiliation":[{"name":"Molecular Inflammation Group Biomedical Research Institute of Murcia (IMIB)  Murcia Spain"},{"name":"Department of Biochemistry and Molecular Biology B and Immunology, Faculty of Medicine University of Murcia  Murcia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan I.","family":"Ar\u00f3stegui","sequence":"additional","affiliation":[{"name":"Department of Immunology Hospital Cl\u00ednic  Barcelona Spain"},{"name":"Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer  Barcelona Spain"},{"name":"School of Medicine University of Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,2,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41584\u2010022\u201000797\u20101"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010pathmechdis\u2010030121\u2010041528"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2016.10.022"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis\u20102021\u2010220977"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3066"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20141091"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.39960"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14757"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.702527"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.674808"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2019.02448"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/dermatopathology8030037"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.5152\/TurkArchPediatr.2021.21303"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.4274\/balkanmedj.galenos.2020.2020.4.82"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.41999"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2020.01840"}],"container-title":["Australasian 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