{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T17:46:50Z","timestamp":1784828810817,"version":"3.55.0"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T00:00:00Z","timestamp":1759622400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82373459"],"award-info":[{"award-number":["82373459"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82373500"],"award-info":[{"award-number":["82373500"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,6]]},"abstract":"<jats:p>We report two gain-of-function IRF6 variants (p.Ile218_Ser220delinsSerSerGlyAla; p.Ile218Asn) as the genetic basis of early-onset hidradenitis suppurativa, ectodermal dysplasia and deafness (HSEDD) \u2013 a novel syndrome expanding IRF6-related disorders beyond developmental phenotypes. These variants constitutively hyperactivate IL-1\u03b2 and IFN pathways in keratinocytes and patient tissues. This work establishes IRF6-driven autoinflammation as a therapeutic target for HSEDD and related skin disorders.<\/jats:p>","DOI":"10.1093\/bjd\/ljaf390","type":"journal-article","created":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T11:56:25Z","timestamp":1759492585000},"page":"168-170","source":"Crossref","is-referenced-by-count":2,"title":["Gain-of-function variants in\n                    <i>IRF6<\/i>\n                    cause hidradenitis suppurativa, ectodermal dysplasia and deafness syndrome"],"prefix":"10.1093","volume":"194","author":[{"given":"Zeqiao","family":"Zhang","sequence":"first","affiliation":[{"name":"Dermatology Hospital, Southern Medical University , Guangzhou ,","place":["China"]},{"name":"The First School of Clinical Medicine, Southern Medical University , Guangzhou ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaolei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Capital 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