{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:07:58Z","timestamp":1791389278476,"version":"4.3.3"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T00:00:00Z","timestamp":1709078400000},"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":["Aust J Dermatology"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Netherton syndrome (NS) is a rare autosomal recessive genodermatosis. In this article, we present two siblings with NS who harbour a novel variant in the SPINK5 gene and were treated with infliximab infusions. Both patients exhibited the characteristic clinical triad of NS, and their whole exome sequencing analysis revealed a homozygous variant, c.1820+53G&gt;A, in the SPINK5 gene. Notably, this is the first documented instance of homozygosity for this particular variant. Despite the absence of a specific treatment, both patients achieved total clearance of the skin lesions, and a significant decrease in total IgE levels was documented.<\/jats:p>","DOI":"10.1111\/ajd.14234","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T05:09:31Z","timestamp":1709183371000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel <scp>SPINK5<\/scp> gene variant and literature review"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7717-9828","authenticated-orcid":false,"given":"Nazmiye Selin","family":"Salici","sequence":"first","affiliation":[{"name":"Department of Dermatology and Venereology Ko\u00e7 University School of Medicine  Zeytinburnu Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4298-7942","authenticated-orcid":false,"given":"Adil","family":"Ozcanli","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology Ko\u00e7 University School of Medicine  Zeytinburnu Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4898-278X","authenticated-orcid":false,"given":"Gunel","family":"Rasulova","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology Ko\u00e7 University School of Medicine  Zeytinburnu Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6977-2517","authenticated-orcid":false,"given":"Ayse Nazli","family":"Basak","sequence":"additional","affiliation":[{"name":"Neurodegeneration Research Laboratory, Suna and Inan K\u0131ra\u00e7 Foundation KUTTAM, Ko\u00e7 University School of Medicine  Zeytinburnu Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5223-5627","authenticated-orcid":false,"given":"Seyma","family":"Tekgul","sequence":"additional","affiliation":[{"name":"Neurodegeneration Research Laboratory, Suna and Inan K\u0131ra\u00e7 Foundation KUTTAM, Ko\u00e7 University School of Medicine  Zeytinburnu Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6561-196X","authenticated-orcid":false,"given":"Secil","family":"Vural","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology Ko\u00e7 University School of Medicine  Zeytinburnu Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,2,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/75977"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.124"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2017.07.019"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2017.07.019"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajd.13880"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.1074243"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1611"},{"key":"e_1_2_9_9_1","unstructured":"[cited 2023 Dec 25]. Available from:https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV001417211.5"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.366"},{"issue":"1","key":"e_1_2_9_11_1","first-page":"37","article-title":"Netherton syndrome and its multifaceted defective protein LEKTI","volume":"148","author":"D'Alessio M","year":"2013","journal-title":"G Ital Dermatol Venereol"}],"container-title":["Australasian Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ajd.14234","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T05:59:22Z","timestamp":1715925562000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ajd.14234"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,28]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1111\/ajd.14234"],"URL":"https:\/\/doi.org\/10.1111\/ajd.14234","archive":["Portico"],"relation":{},"ISSN":["0004-8380","1440-0960"],"issn-type":[{"value":"0004-8380","type":"print"},{"value":"1440-0960","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,28]]},"assertion":[{"value":"2023-12-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}