{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T08:32:11Z","timestamp":1748421131664,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T00:00:00Z","timestamp":1719532800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Systemic sclerosis (SSc) and cryopyrin\u2010associated periodic syndrome (CAPS) are distinct clinical entities belonging to the autoimmune and autoinflammatory diseases, respectively. The coexistence of the two entities has rarely been reported and is poorly characterized. Here, we described a case of a 38\u2010year\u2010old Japanese woman diagnosed with anti\u2010centromere antibody\u2010positive SSc and CAPS carrying the pathogenic mutation in the <jats:italic>NLRP3<\/jats:italic> gene, with a detailed autoantibody profile by a high\u2010throughput comprehensive protein array covering approximately 90% of the human transcriptome. The clinical manifestations of the patient were typical of both SSc and CAPS. Comprehensive autoantibody profiling identified 65 autoantibodies in the patient's serum and 78 autoantibodies in the serum of her daughter with CAPS, who carried the same <jats:italic>NLRP3<\/jats:italic> mutation as the patient. SSc\u2010associated autoantibodies (anti\u2010DBT, anti\u2010 CENP\u2010B, and anti\u2010CENP\u2010A) and anti\u2010CD320 antibody were detected at high levels only in the patient's serum, while autoantibodies to the following four proteins were detected in the sera of both the patient and her daughter: TRIM21, LIMS1, CLIP4, and KAT2A. The TRRUST enrichment analysis identified NF\u2010\u03baB1 and RelA as overlapping key transcription factors that regulate the genes encoding proteins to which autoantibodies were detected in the patient and her daughter, therefore the autoantibody profile of the patient cannot be solely attributed to SSc, but may also be influenced by CAPS. Although autoimmune and autoinflammatory diseases are considered to be at opposite ends of the immunological spectrum, detailed autoantibody profiling may reveal a unique immunological landscape in an overlapping case of the two entities.<\/jats:p>","DOI":"10.1111\/1346-8138.17358","type":"journal-article","created":{"date-parts":[[2024,6,28]],"date-time":"2024-06-28T10:03:53Z","timestamp":1719569033000},"page":"1240-1244","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Coexistence of systemic sclerosis and cryopyrin\u2010associated periodic syndrome"],"prefix":"10.1111","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2261-7469","authenticated-orcid":false,"given":"Ai","family":"Kuzumi","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Tokyo Graduate School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8194-9140","authenticated-orcid":false,"given":"Ayumi","family":"Yoshizaki","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Tokyo Graduate School of Medicine  Tokyo Japan"},{"name":"Department of Clinical Cannabinoid Research University of Tokyo Graduate School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuki","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Tokyo Graduate School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kojiro","family":"Nagai","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Tokyo Graduate School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Tokyo Graduate School of Medicine  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0806188"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0810787"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2012.07.018"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2007.02540.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2013-204991"},{"key":"e_1_2_7_7_1","first-page":"235","article-title":"Urticaria, deafness, and amyloidosis: a new heredo\u2010familial syndrome","volume":"31","author":"Muckle TJ","year":"1962","journal-title":"Q J Med"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.2147\/OARRR.S114447"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/annrheumdis-2013-204424"},{"key":"e_1_2_7_10_1","first-page":"1892","article-title":"Skin thickness score in systemic sclerosis: an assessment of interobserver variability in 3 independent studies","volume":"20","author":"Clements PJ","year":"1993","journal-title":"J Rheumatol"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaut.2023.102995"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/gtc.12832"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2023.1255540"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep11432"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-09234-6"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.3109\/14397595.2013.844298"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.17358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T08:14:06Z","timestamp":1741767246000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.17358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,28]]},"references-count":15,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1111\/1346-8138.17358"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.17358","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"type":"print","value":"0385-2407"},{"type":"electronic","value":"1346-8138"}],"subject":[],"published":{"date-parts":[[2024,6,28]]},"assertion":[{"value":"2024-04-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}