{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:16:10Z","timestamp":1790630170801,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,7,29]],"date-time":"2019-07-29T00:00:00Z","timestamp":1564358400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Generalized pustular psoriasis (<jats:styled-content style=\"fixed-case\">GPP<\/jats:styled-content>) is now known to be caused by biallelic variants in <jats:italic><jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>36<jats:styled-content style=\"fixed-case\">RN<\/jats:styled-content><\/jats:italic> and monoallelic variants in <jats:italic><jats:styled-content style=\"fixed-case\">CARD<\/jats:styled-content>14<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">AP<\/jats:styled-content>1S3<\/jats:italic>. The presence of a modifier locus or oligogenic inheritance have been hypothesized. We report on a patient with a unique coinheritance of pathogenic variants in <jats:italic><jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>36<jats:styled-content style=\"fixed-case\">RN<\/jats:styled-content><\/jats:italic> (c.115+6T&gt;C) and <jats:italic><jats:styled-content style=\"fixed-case\">TNFAIP<\/jats:styled-content>3<\/jats:italic> (c.547C&gt;T, p.R183<jats:bold>*<\/jats:bold>) causing the genetic entities <jats:styled-content style=\"fixed-case\">GPP<\/jats:styled-content> and familial Beh\u00e7et\u2010like autoinflammatory syndrome (<jats:styled-content style=\"fixed-case\">AISBL<\/jats:styled-content>). The heterozygous variant in <jats:italic><jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>36<jats:styled-content style=\"fixed-case\">RN<\/jats:styled-content><\/jats:italic> identified by Sanger sequencing was inherited from his unaffected father, while the heterozygous variant in <jats:italic><jats:styled-content style=\"fixed-case\">TNFAIP<\/jats:styled-content>3<\/jats:italic> was detected by whole\u2010exome sequencing and was also identified in the patient's <jats:styled-content style=\"fixed-case\">AISBL<\/jats:styled-content>\u2010affected maternal relatives. Further functional studies are required to research whether the variant of <jats:italic><jats:styled-content style=\"fixed-case\">TNFAIP<\/jats:styled-content>3<\/jats:italic> plays a part in the development of <jats:styled-content style=\"fixed-case\">GPP<\/jats:styled-content> or simply causes the Beh\u00e7et's disease phenotype. However, our data suggest that whole\u2010exome sequencing for the heterozygous carrier of the <jats:italic><jats:styled-content style=\"fixed-case\">IL<\/jats:styled-content>36<jats:styled-content style=\"fixed-case\">RN<\/jats:styled-content><\/jats:italic> gene in <jats:styled-content style=\"fixed-case\">GPP<\/jats:styled-content> be used to find the potential second genetic locus.<\/jats:p>","DOI":"10.1111\/1346-8138.15034","type":"journal-article","created":{"date-parts":[[2019,7,29]],"date-time":"2019-07-29T09:03:55Z","timestamp":1564391035000},"page":"907-910","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Coinheritance of generalized pustular psoriasis and familial Beh\u00e7et\u2010like autoinflammatory syndrome with variants in <i><scp>IL<\/scp>36<scp>RN<\/scp><\/i> and <i><scp>TNFAIP<\/scp>3<\/i> in the heterozygous state"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6311-510X","authenticated-orcid":false,"given":"Jianying","family":"Liang","sequence":"first","affiliation":[{"name":"Department of Dermatology Xinhua Hospital School of Medicine Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital School of Medicine Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yifeng","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital School of Medicine Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaihua","family":"Yang","sequence":"additional","affiliation":[{"name":"Digestive Department of Pediatrics Shanghai Children's Medical Center School of Medicine Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Ni","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital School of Medicine Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital School of Medicine Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangsheng","family":"Kong","sequence":"additional","affiliation":[{"name":"School of Life Sciences Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3053-2756","authenticated-orcid":false,"given":"Ming","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital School of Medicine Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyong","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital School of Medicine Shanghai Jiaotong University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5338-6304","authenticated-orcid":false,"given":"Zhirong","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital School of Medicine Shanghai Jiaotong University Shanghai 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