{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:08:22Z","timestamp":1787162902631,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,6,29]],"date-time":"2020-06-29T00:00:00Z","timestamp":1593388800000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Discoid lupus erythematosus (DLE) is an autoimmune disorder with a poorly defined etiology. Despite epidemiologic gender and ethnic biases, a clear genetic basis for DLE remains elusive. In this study, we used exome and RNA sequencing technologies to characterize a consanguineous Lebanese family with four affected individuals who presented with classical scalp DLE and generalized folliculitis. Our results unraveled a novel biallelic variant c.1313C\u2009&gt;\u2009A leading to a missense substitution p.(Thr438Asn) in\n                    <jats:italic>TRAF3IP2<\/jats:italic>\n                    (NM_147200.3). Expression studies in cultured cells revealed mis\u2010localization of the mutated protein. Functional characterization of the mutated protein showed significant reduction in the physical interaction with the interleukin 17\u2010A receptor (IL17RA), while interaction with TRAF6 was unaffected. By conducting a differential genome\u2010wide transcriptomics analysis between affected and non\u2010affected individuals, we showed that the hair follicle differentiation pathway is drastically suppressed, whereas cytokine and inflammation responses are significantly upregulated. Furthermore, our results were highly concordant with molecular signatures in patients with DLE from a public dataset. In conclusion, this is the first report on a new putative role for\n                    <jats:italic>TRAF3IP2<\/jats:italic>\n                    in the etiology of DLE. The identified molecular features associated with this gene could pave the way for better DLE\u2010targeted treatment.\n                  <\/jats:p>","DOI":"10.1111\/cge.13767","type":"journal-article","created":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T04:01:24Z","timestamp":1588219284000},"page":"116-125","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["A novel\n                    <scp>\n                      <i>TRAF3IP2<\/i>\n                    <\/scp>\n                    variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2157-5279","authenticated-orcid":false,"given":"Georges","family":"Nemer","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nehme","family":"El\u2010Hachem","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut  Beirut Lebanon"},{"name":"Pillar Genomics Institute of Precision Medicine American University of Beirut  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9355-2474","authenticated-orcid":false,"given":"Edward","family":"Eid","sequence":"additional","affiliation":[{"name":"Dermatology American University of Beirut  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lamiaa","family":"Hamie","sequence":"additional","affiliation":[{"name":"Dermatology American University of Beirut  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara","family":"Bardawil","sequence":"additional","affiliation":[{"name":"Dermatology American University of Beirut  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3071-5176","authenticated-orcid":false,"given":"Samar","family":"Khalil","sequence":"additional","affiliation":[{"name":"Dermatology American University of Beirut  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inaam","family":"El\u2010Rassy","sequence":"additional","affiliation":[{"name":"Pillar Genomics Institute of Precision Medicine American University of Beirut  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Remi","family":"Safi","sequence":"additional","affiliation":[{"name":"Dermatology American University of Beirut  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athar","family":"Khalil","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics American University of Beirut  Beirut 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