{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T03:51:35Z","timestamp":1788580295297,"version":"build-2803163510"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T00:00:00Z","timestamp":1694044800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Variants in COL7A1 cause an extremely rare and clinically heterogeneous syndrome known as dystrophic epidermolysis bullosa pruriginosa (DEB\u2010Pr). Duplilumab, a fully humanized anti\u2010IL\u20104Ra monoclonal antibody, can inhibit IL\u20104 and IL\u201013\u2010driven signaling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Ethical Compliance: Following our Institutional Review Board, genetic testing has been made available after completing a signed informed consent form. This article presents the case study of a DEB\u2010Pr patient who received dupilumab therapy. Genomic DNA was extracted from the peripheral blood of the patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The findings showed that a unique COL7A1 mutation was discovered in the patient who underwent genetic testing. As a result of the patient receiving dupilumab treatment, the individual reported experiencing significantly less itching and considerably improved erythema, less severe scales, crusts, and flattening of plaques.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In conclusion, the current investigation showed that to the best of our knowledge, this is the first DEB\u2010Pr patient with heterozygous COL7A1 (NM_000094.3:c.8110G&gt;A [p. Gly2704Arg]) who responded positively to dupilumab treatment without experiencing any serious side effects.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2258","type":"journal-article","created":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T14:10:27Z","timestamp":1694095827000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Identification of a novel <i>COL7A1<\/i> variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3454-1385","authenticated-orcid":false,"given":"Caichou","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Dermatology Affiliated Hospital of Nantong University  Nantong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuanglin","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Dermatology Affiliated Hospital of Nantong University  Nantong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinghua","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Dermatology No. 1 Hospital of China Medical University, National Health Commission Key Laboratory of Immunodermatology of Ministry of Education  Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuegang","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Dermatology No. 1 Hospital of China Medical University, National Health Commission Key Laboratory of Immunodermatology of Ministry of Education  Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lixiong","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Affiliated Hospital of Nantong University  Nantong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2021.07.036"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.17671"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajd.13342"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.17886"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.18250"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.15364"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.1994.tb13109.x"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.18176\/jiaci.0682"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ad.2022.05.045"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18855"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/dth.15130"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.16729"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1089\/DERM.0000000000000954"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14493"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T03:46:56Z","timestamp":1700279216000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,7]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1002\/mgg3.2258"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2258","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,7]]},"assertion":[{"value":"2023-02-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2258"}}