{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T23:10:18Z","timestamp":1771542618938,"version":"3.50.1"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,21]],"date-time":"2022-11-21T00:00:00Z","timestamp":1668988800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2020M683318"],"award-info":[{"award-number":["2020M683318"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012542","name":"Sichuan Province Science and Technology Support Program","doi-asserted-by":"publisher","award":["2020YFS0197"],"award-info":[{"award-number":["2020YFS0197"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012542","name":"Sichuan Province Science and Technology Support Program","doi-asserted-by":"publisher","award":["2020YJ0059"],"award-info":[{"award-number":["2020YJ0059"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Enterokinase deficiency (EKD) is a rare autosomal recessive inherited disorder caused by loss\u2010of\u2010function mutations of the transmembrane protease serine 15 (<jats:italic>TMPRSS15<\/jats:italic>) gene. To date, only 12 cases of EKD have been described in the literature and skin involvement has seldom been described. We identified a novel homozygous nonsense mutation in the <jats:italic>TMPRSS15<\/jats:italic> gene (c.1216C&gt;T, p.R406*) in a female infant, who manifested with acrodermatitis enteropathica (AE)\u2010like lesions that were dramatically relieved within 11\u2009days after initiation of a protein\u2010rich hydrolyzed formula. Our case shows that AE\u2010like rashes can be a manifestation of EKD and expands the spectrum of causative mutations in the <jats:italic>TMPRSS15<\/jats:italic> gene.<\/jats:p>","DOI":"10.1111\/pde.15197","type":"journal-article","created":{"date-parts":[[2022,11,22]],"date-time":"2022-11-22T01:54:12Z","timestamp":1669082052000},"page":"389-391","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Enterokinase deficiency with novel <i>TMPRSS15<\/i> gene mutation masquerading as acrodermatitis enteropathica"],"prefix":"10.1111","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2662-743X","authenticated-orcid":false,"given":"Yusha","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3804-8256","authenticated-orcid":false,"given":"Zhongtao","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuangwen","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics West China Second University Hospital, Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-021-03801-w"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.538778"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/338456"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(83)90033-1"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.13369"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15197","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.15197","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15197","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T23:28:49Z","timestamp":1692574129000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15197"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,21]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1111\/pde.15197"],"URL":"https:\/\/doi.org\/10.1111\/pde.15197","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,21]]},"assertion":[{"value":"2022-08-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-03","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}