{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:51:31Z","timestamp":1747187491521,"version":"3.40.5"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T00:00:00Z","timestamp":1685491200000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An 8\u2010year\u2010old female with chronic oral candidiasis and severe seborrheic dermatitis was found to have a heterozygous mutation (p.R14X c.40 C&gt;T) of the <jats:italic>IL\u201017RC<\/jats:italic> gene, which was predicted to possibly represent a new pathogenic variant via truncation or nonsense\u2010mediated mRNA decay. Given previously reported <jats:italic>IL\u201017RC<\/jats:italic>\u2010related disorders are autosomal recessive, we would expect an affected individual to have two mutated alleles whereas our patient was heterozygous. Given the overlapping clinical picture, this variant could be responsible for altered immunity against both <jats:italic>Candida<\/jats:italic> and <jats:italic>Malassezia<\/jats:italic> species. This is the first report to our knowledge of chronic oral candidiasis and severe seborrheic dermatitis in a patient with a heterozygous variant (p.R14X c.40 C&gt;T) for the <jats:italic>IL\u201017RC<\/jats:italic> gene.<\/jats:p>","DOI":"10.1111\/pde.15343","type":"journal-article","created":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T09:26:05Z","timestamp":1685525165000},"page":"1145-1146","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Oral candidiasis and seborrheic dermatitis in an 8\u2010year\u2010old female with a heterozygous variant of the IL\u201017RC gene"],"prefix":"10.1111","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9887-9580","authenticated-orcid":false,"given":"Kathryn","family":"Bentivegna","sequence":"first","affiliation":[{"name":"University of Connecticut School of Medicine  Farmington Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonas A.","family":"Adalsteinsson","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Connecticut School of Medicine  Farmington Connecticut USA"},{"name":"Department of Dermatology University of Utah  Salt Lake City Utah USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Wu","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Dermatology University of Connecticut School of Medicine  Farmington Connecticut USA"},{"name":"Department of Pediatrics University of Connecticut School of Medicine  Farmington Connecticut USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5,31]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20141065"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00281\u2010009\u20100185\u20100"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2013.09.002"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lanepe.2021.100266"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.13622"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15343","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,2]],"date-time":"2024-01-02T15:38:17Z","timestamp":1704209897000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15343"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,31]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1111\/pde.15343"],"URL":"https:\/\/doi.org\/10.1111\/pde.15343","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2023,5,31]]},"assertion":[{"value":"2022-12-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}