{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T22:13:42Z","timestamp":1758924822838,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,10,21]],"date-time":"2019-10-21T00:00:00Z","timestamp":1571616000000},"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":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Heterozygous <jats:italic>STAT1<\/jats:italic> gain\u2010of\u2010function (GOF) mutations result in a combined form of immunodeficiency which is the most common genetic cause of chronic mucocutaneous candidiasis (CMC). We present a pedigree with a GOF mutation in <jats:italic>STAT1,<\/jats:italic> manifesting with chronic demodicosis in the form of a facial papulopustular eruption, blepharitis, and chalazion. So far, demodicosis has been described in only one family with <jats:italic>STAT1<\/jats:italic>\u2010GOF mutation. We suggest that chronic demodicosis is an under\u2010recognized feature of the immune dysregulation disorder caused by <jats:italic>STAT1<\/jats:italic> gain\u2010of\u2010function mutations.<\/jats:p>","DOI":"10.1111\/pde.14011","type":"journal-article","created":{"date-parts":[[2019,10,22]],"date-time":"2019-10-22T00:34:56Z","timestamp":1571704496000},"page":"153-155","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["<i>STAT1<\/i> gain\u2010of\u2010function and chronic demodicosis"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5346-611X","authenticated-orcid":false,"given":"Vered","family":"Molho\u2010Pessach","sequence":"first","affiliation":[{"name":"Department of Dermatology Hadassah Medical Center The Faculty of Medicine Hebrew University of Jerusalem Jerusalem Israel"},{"name":"The Center for Genetic Diseases of the Skin and Hair Hadassah Medical Center The Faculty of Medicine Hebrew University of Jerusalem Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnon","family":"Meltser","sequence":"additional","affiliation":[{"name":"The Center for Genetic Diseases of the Skin and Hair Hadassah Medical Center The Faculty of Medicine Hebrew University of Jerusalem Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adaia","family":"Kamshov","sequence":"additional","affiliation":[{"name":"Genoox Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuval","family":"Ramot","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hadassah Medical Center The Faculty of Medicine Hebrew University of Jerusalem Jerusalem Israel"},{"name":"The Center for Genetic Diseases of the Skin and Hair Hadassah Medical Center The Faculty of Medicine Hebrew University of Jerusalem Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abraham","family":"Zlotogorski","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hadassah Medical Center The Faculty of Medicine Hebrew University of Jerusalem Jerusalem Israel"},{"name":"The Center for Genetic Diseases of the Skin and Hair Hadassah Medical Center The Faculty of Medicine Hebrew University of Jerusalem Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,10,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-015-0214-9"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2015-11-679902"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20110958"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coi.2015.01.005"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.09.035"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.14413"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.17219\/acem\/37081"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12850"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2011.04310.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2005.00103.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13555-018-0249-y"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.140.4.457"},{"key":"e_1_2_5_14_1","first-page":"458046","article-title":"Crusted demodicosis in an immunocompetent pediatric patient","volume":"2014","author":"Guerrero\u2010Gonz\u00e1lez GA","year":"2014","journal-title":"Case Rep Dermatol Med"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.16540"},{"key":"e_1_2_5_16_1","first-page":"12","article-title":"Human permanent ectoparasites; recent advances on biology and clinical significance of Demodex mites: narrative review article","volume":"12","author":"Litwin D","year":"2017","journal-title":"Iran J Parasitol"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.14011","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14011","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.14011","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.14011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T02:24:23Z","timestamp":1693362263000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.14011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,21]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1111\/pde.14011"],"URL":"https:\/\/doi.org\/10.1111\/pde.14011","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2019,10,21]]},"assertion":[{"value":"2019-10-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}