{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T22:46:49Z","timestamp":1791499609759,"version":"4.3.4"},"reference-count":19,"publisher":"Scientific Scholar","content-domain":{"domain":["ijdvl.com"],"crossmark-restriction":true},"short-container-title":["IJDVL"],"abstract":"<jats:sec id=\"st1\">\n<jats:title>Background<\/jats:title>\n<jats:p>Generalized pustular psoriasis (GPP) is a chronic disease associated with genetic factors related to mutations of the interleukin 36 receptor antagonist gene (<jats:italic>IL36RN<\/jats:italic>) and the caspase recruitment domain 14 gene (<jats:italic>CARD14<\/jats:italic>). However, the relevance of these mutations to the clinical features and severity of GPP remains unclear.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st2\">\n<jats:title>Aims<\/jats:title>\n<jats:p>Our objective was to correlate the presence of <jats:italic>IL36RN<\/jats:italic> and <jats:italic>CARD14<\/jats:italic> mutations with the clinical and laboratory findings in patients with GPP.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st3\">\n<jats:title>Methods<\/jats:title>\n<jats:p>This cross-sectional descriptive study was conducted in 64 subjects with GPP. Clinical manifestations were recorded and the severity was graded as mild, moderate, or severe. Routine laboratory tests were performed and blood samples were collected for Sanger sequencing. The clinical data of patients were compared among the different mutation groups.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st4\">\n<jats:title>Results<\/jats:title>\n<jats:p>The two main variants of <jats:italic>IL36RN<\/jats:italic> were c.115+6T &gt; C (p.Arg10ArgfsX1) and c.227C &gt; T (p.Pro76Leu). The major <jats:italic>CARD14<\/jats:italic> mutations were c.2458C &gt; T (p.Arg820Trp), c.1641C &gt; T (p.Arg547Ser), and c.1753G &gt; A transitions.<\/jats:p>\n<jats:p>Provocative factors were uncommon in the group with both <jats:italic>IL36RN<\/jats:italic> and <jats:italic>CARD14<\/jats:italic> mutations. Drugs (unspecified), especially herbals, were the most common triggers. A history of psoriasis was frequent in patients with only <jats:italic>CARD14<\/jats:italic> mutations, but fever was uncommon. The c.1641C &gt; T mutation was associated with leukocytosis &gt; 15000\/mm<jats:sup>3<\/jats:sup> and the c.1753G &gt; A mutation was associated with hypoalbuminemia &lt;3.8g\/dL.<\/jats:p>\n<jats:p>Both the c.115+6T &gt; C and c.227C &gt; T variants of <jats:italic>IL36RN<\/jats:italic> were associated with fever \u226538.5\u00b0C while the c.115+6T &gt; C variant was also associated with geographic tongue.<\/jats:p>\n<jats:p>No gene mutations were associated with the total severity and severity grades.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st5\">\n<jats:title>Limitations<\/jats:title>\n<jats:p>Four patients without the two major <jats:italic>IL36RN<\/jats:italic> mutations were excluded from the study.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"st6\">\n<jats:title>Conclusion<\/jats:title>\n<jats:p>The presence of <jats:italic>IL36RN<\/jats:italic> and <jats:italic>CARD14<\/jats:italic> mutations were associated with a history of psoriasis, various provocative factors, fever, leukocytosis, hypoalbuminemia, and geographic tongue. Further studies to explore the role of these mutations in therapeutic efficacy and disease outcomes are necessary.<\/jats:p>\n<\/jats:sec>","DOI":"10.25259\/ijdvl_1054_2021","type":"journal-article","created":{"date-parts":[[2022,9,23]],"date-time":"2022-09-23T09:15:57Z","timestamp":1663924557000},"page":"378-384","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Correlation of <i>IL36RN<\/i> and <i>CARD14<\/i> mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis"],"prefix":"10.25259","volume":"89","author":[{"given":"Nguyen Ngoc","family":"Trai","sequence":"first","affiliation":[{"name":"Department of Dermatology, Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dang","family":"Van Em","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Institute of Clinical Research and Medicine, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bui Thi","family":"Van","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Institute of Clinical Research and Medicine, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Le Huyen","family":"My","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Hanoi Central Institute of Dermatology, Dong Da, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chau","family":"Van Tro","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Trong","family":"Hao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Ho Chi Minh City Hospital of Dermato Venereology, Ho Chi Minh City, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hoang Anh","family":"Vu","sequence":"additional","affiliation":[{"name":"Center for Molecular Biomedicine, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duong Bich","family":"Tram","sequence":"additional","affiliation":[{"name":"Center for Molecular Biomedicine, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen","family":"Van Thuong","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Hanoi Central Institute of Dermatology, Dong Da, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Le Huu","family":"Doanh","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Hanoi Central Institute of Dermatology, Dong Da, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","published-online":{"date-parts":[[2022,9,17]]},"reference":[{"key":"10.25259\/IJDVL_1054_2021\/ref-1","doi-asserted-by":"publisher","first-page":"2514","DOI":"10.1038\/jid.2013.230","article-title":"The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist","volume":"133","author":"Sugiura","year":"2013","journal-title":"J Invest Dermatol"},{"key":"10.25259\/IJDVL_1054_2021\/ref-2","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1016\/j.jdermsci.2014.02.006","article-title":"The genetic background of generalized pustular psoriasis: IL36RN mutations and CARD14 gain-of-function variants","volume":"74","author":"Sugiura","year":"2014","journal-title":"J Dermatol Sci"},{"key":"10.25259\/IJDVL_1054_2021\/ref-3","doi-asserted-by":"publisher","first-page":"1755","DOI":"10.1038\/jid.2014.46","article-title":"CARD14 c. 526G> C (p. 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