{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T19:07:23Z","timestamp":1791400043527,"version":"4.3.3"},"reference-count":10,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,7,9]],"date-time":"2013-07-09T00:00:00Z","timestamp":1373328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2013,9]]},"abstract":"Abstract<\/jats:title>\n \n Generalized pustular psoriasis is a distinct type of psoriasis characterized by recurrent febrile attacks with disseminated subcorneal pustules on generalized skin rashes. Recently, homozygous and compound heterozygous mutations of the\n \n IL<\/jats:styled-content>\n 36\n RN<\/jats:styled-content>\n <\/jats:italic>\n gene, which encodes the anti\u2010inflammatory cytokine interleukin (IL)\u201036 receptor antagonist, were identified in familial and sporadic cases of various ethnicities with generalized pustular psoriasis. Here we report a 39\u2010year\u2010old\n J<\/jats:styled-content>\n apanese male patient who had suffered from repeated attacks of generalized pustular psoriasis since infancy with intervals of several years. At presentation, erythematous lesions with a few pustules were found only on some parts of the body and controlled with topical corticosteroids. An analysis of the\n \n IL<\/jats:styled-content>\n 36\n RN<\/jats:styled-content>\n <\/jats:italic>\n gene revealed compound heterozygous mutations of c.28\n C<\/jats:styled-content>\n >\n T<\/jats:styled-content>\n and c.368\n C<\/jats:styled-content>\n >\n T<\/jats:styled-content>\n . While the former mutation causing the premature termination p.\n A<\/jats:styled-content>\n rg10\n X<\/jats:styled-content>\n is recurrent in\n J<\/jats:styled-content>\n apanese cases, the latter missense mutation causing p.\n T<\/jats:styled-content>\n hr123\n M<\/jats:styled-content>\n et substitution is novel, but another mutation in the same position has been reported in one\n J<\/jats:styled-content>\n apanese case. Our report further supports the presence of the\n J<\/jats:styled-content>\n apanese\u2010specific hot spots in the\n \n IL<\/jats:styled-content>\n 36\n RN<\/jats:styled-content>\n <\/jats:italic>\n gene, 28\n C<\/jats:styled-content>\n and 368\n C<\/jats:styled-content>\n , and suggests the functional significance of\n T<\/jats:styled-content>\n hr123. This special type of generalized pustular psoriasis caused by\n \n IL<\/jats:styled-content>\n 36\n RN<\/jats:styled-content>\n <\/jats:italic>\n mutations has been designated as deficiency for IL\u201036 receptor antagonist, a new hereditary autoinflammatory disease, and its phenotypes have emerged to include other related pustular disorders, palmoplantar pustulosis, acrodermatitis continua of\n H<\/jats:styled-content>\n allopeau, and acute generalized exanthematous pustulosis. The genetic analysis of the cases with these diseases would be important for establishment and application of the specific treatments targeting the\n IL<\/jats:styled-content>\n \u201036 signaling.\n <\/jats:p>","DOI":"10.1111\/1346-8138.12227","type":"journal-article","created":{"date-parts":[[2013,7,9]],"date-time":"2013-07-09T03:16:52Z","timestamp":1373339812000},"page":"749-751","source":"Crossref","is-referenced-by-count":69,"title":["Novel\n \n IL<\/scp>\n 36\n RN<\/scp>\n <\/i>\n mutation in a\n J<\/scp>\n apanese case of early onset generalized pustular psoriasis"],"prefix":"10.1111","volume":"40","author":[{"given":"Nobuo","family":"Kanazawa","sequence":"first","affiliation":[{"name":"Department of Dermatology Wakayama Medical University Wakayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoyuki","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Dermatology Wakayama Rosai Hospital Wakayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoya","family":"Mikita","sequence":"additional","affiliation":[{"name":"Department of Dermatology Wakayama Medical University Wakayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fukumi","family":"Furukawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Wakayama Medical University Wakayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,7,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61128-3"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1013068"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.022"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1003162"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI63451"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2012.10953.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22203"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2012.01.004"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.490"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.44"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.12227","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.12227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T10:24:24Z","timestamp":1696242264000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.12227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,9]]},"references-count":10,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["10.1111\/1346-8138.12227"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.12227","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,9]]}}}