{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T12:21:47Z","timestamp":1784031707708,"version":"3.55.0"},"reference-count":22,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,11,30]],"date-time":"2023-11-30T00:00:00Z","timestamp":1701302400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"University School of Medicine"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Cryopyrin-associated periotic syndrome (CAPS) is a rare autoinflammatory disease caused by genetic variants in innate immunity genes. Autoinflammatory diseases, including CAPS, mediate proinflammatory cytokines such as interleukin (IL)-1 and IL-18 and result in severe systemic inflammation. A gain-of-function mutation in the NLR family pyrin domain-containing 3 (NLRP3) gene, which encodes the protein cryopyrin, was identified to be responsible for CAPS in 2001, and since then several additional pathogenic mutations have been found. Moreover, other phenotypes have been identified based on severity and symptomatology, including familial cold autoinflammatory syndrome, Muckle\u2013Wells syndrome, and neonatal-onset multisystem inflammatory disease\/chronic neurologic cutaneous articular syndrome. Prompt diagnosis of CAPS remains challenging, however, due to unspecific, extensive clinical signs, and delayed diagnosis and treatment targeting IL-1 lead to multiorgan damage. Another factor complicating diagnosis is the existence of somatic mosaic mutations in the NLRP3 gene in some cases, resulting in symptoms and clinical courses that are atypical. The frequency of somatic mosaic mutations in CAPS was estimated to be 19% in a systematic review. Psoriasis is a chronic inflammatory skin disease that affects \u223c3% of the global population. Although no reports have shown complication between CAPS and psoriasis, these diseases have several similarities and potential relationships, for instance activation of T helper 17 cells in the dermis and increased NLRP3 gene expression in psoriatic skin compared with normal skin. Here, we report a case of CAPS due to a somatic mosaic mutation with recurrent circinate erythematous psoriasis.<\/jats:p>","DOI":"10.1093\/mrcr\/rxad067","type":"journal-article","created":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T02:44:03Z","timestamp":1701398643000},"page":"368-372","source":"Crossref","is-referenced-by-count":3,"title":["A case of\u00a0cryopyrin-associated periodic syndrome due to somatic mosaic mutation complicated with recurrent circinate erythematous psoriasis"],"prefix":"10.1093","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6012-5484","authenticated-orcid":false,"given":"Taiki","family":"Ando","sequence":"first","affiliation":[{"name":"Department of Internal Medicine and Rheumatology, Juntendo University School of Medicine , Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiyuki","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Rheumatology, Juntendo University School of Medicine , Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Yamaji","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Rheumatology, Juntendo University School of Medicine , Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryuta","family":"Nishikomori","sequence":"additional","affiliation":[{"name":"The Department of Pediatrics and Child Health, Kurume University School of Medicine , Fukuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoto","family":"Tamura","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Rheumatology, Juntendo University School of Medicine , Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,11,30]]},"reference":[{"key":"2024070814411620300_R1","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1038\/ng756","article-title":"Mutation of\u00a0a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and\u00a0Muckle-Wells syndrome","volume":"29","author":"Hoffman","year":"2001","journal-title":"Nat Genet"},{"key":"2024070814411620300_R2","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1080\/10408363.2018.1488805","article-title":"Mosaicism in\u00a0autoinflammatory diseases: cryopyrin-associated periodic syndromes (CAPS) and\u00a0beyond. 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