{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T16:12:36Z","timestamp":1789488756625,"version":"build-2803163510"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T00:00:00Z","timestamp":1768348800000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Abnormal NF\u2010\u03baB activity has been previously implicated in a range of immune\u2010mediated disorders. Here, we aimed to elucidate the genetic basis underlying the co\u2010occurrence of vitiligo, Addison's disease and granuloma annulare in a 43\u2010year\u2010old woman. Whole\u2010exome sequencing identified a heterozygous splice\u2010site variant (c.1364+1G&gt;A, p.Met455fsTer1) in\n                    <jats:italic>IKBKB<\/jats:italic>\n                    , encoding the Inhibitor of \u03baB kinase subunit beta (IKK\u03b2), predicted to result in a premature stop codon. Immunoblotting of keratinocytes transfected with the mutant construct demonstrated the presence of a truncated form of IKK\u03b2. Using a luciferase reporter assay under the control of NF\u2010\u03baB\u2013responsive element, we demonstrated significantly reduced activity of the mutant protein compared to wild\u2010type, supporting a loss\u2010of\u2010function mechanism. In line with this observation, the mutant protein was found to result in decreased expression levels of genes known to be regulated by NF\u2010\u03baB. Furthermore, HeLa cells transfected with the p.Met455fsTer1 variant or\n                    <jats:italic>IKBKB<\/jats:italic>\n                    \u2010targeted siRNA exhibited markedly reduced levels of p105 and its processed form p50, compared with HeLa cells transfected with wild\u2010type\n                    <jats:italic>IKBKB<\/jats:italic>\n                    or control siRNA, respectively. Collectively, these findings indicate that a loss\u2010of\u2010function effect in\n                    <jats:italic>IKBKB<\/jats:italic>\n                    may underlie the co\u2010occurrence of a number of immune\u2010mediated disorders through disruption of NF\u2010\u03baB signalling.\n                  <\/jats:p>","DOI":"10.1111\/exd.70206","type":"journal-article","created":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T10:57:07Z","timestamp":1768388227000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Defective Function of Inhibitor of\n                    <scp>\u03baB<\/scp>\n                    Kinase Subunit Beta Associated With Multiple Immune\u2010Mediated Disorders"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4171-6668","authenticated-orcid":false,"given":"Kiril","family":"Malovitski","sequence":"first","affiliation":[{"name":"Division of Dermatology Tel 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Medicine and Health Sciences Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rawaa","family":"Ishtewy","sequence":"additional","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janan","family":"Mohamad","sequence":"additional","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ofer","family":"Sarig","sequence":"additional","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-6498-9755","authenticated-orcid":false,"given":"Liat","family":"Samuelov","sequence":"additional","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center  Tel Aviv 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