{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T20:05:36Z","timestamp":1783627536069,"version":"3.55.0"},"reference-count":7,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T00:00:00Z","timestamp":1682380800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100019345","name":"King Salman Center for Disability Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019345","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,7]]},"abstract":"<jats:p>Keratinocyte differentiation factor (KDF)1 has been shown to cause ectodermal dysplasia with or without hidradenitis suppurativa in a single family. KDF1 is known to regulate epidermal differentiation through its interaction with I\u03baB kinase (IKK)\u03b1. We report a novel de novo KDF1 variant (p.His254Tyr) in a 20-year-old male patient presenting with hidradenitis suppurativa and ectodermal dysplasia. We demonstrate that variants in KDF1 associated with hidradenitis suppurativa actually cause pathogenic gain-of-function of KDF1 through upregulation of IKK\u03b1. Ectodermal dysplasia may be present in a subset of individuals with hidradenitis suppurativa and should be investigated. Inhibition of IKK\u03b1 appears to be a suitable therapeutic target for these individuals.<\/jats:p>","DOI":"10.1093\/bjd\/ljad075","type":"journal-article","created":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T23:02:32Z","timestamp":1682463752000},"page":"131-132","source":"Crossref","is-referenced-by-count":10,"title":["Gain-of-function variants in the <i>KDF1<\/i> gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing I\u03baB kinase \u03b1"],"prefix":"10.1093","volume":"189","author":[{"given":"Alban","family":"Ziegler","sequence":"first","affiliation":[{"name":"Department of Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Ebstein","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Medizinische Biochemie und Molekularbiologie (IMBM), Universit\u00e4tsmedizin Greifswald , Ferdinand-Sauerbruch-Stra\u00dfe, 17475 Greifswald , Germany"},{"name":"Nantes Universit\u00e9 , 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