{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T11:51:23Z","timestamp":1773834683905,"version":"3.50.1"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2021,7,12]],"date-time":"2021-07-12T00:00:00Z","timestamp":1626048000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Signal transducer and activator of transcription (STAT)1 heterozygous gain-of-function (GOF) mutations are known to induce immune dysregulation and chronic mucocutaneous candidiasis (CMCC). Previous reports suggest an association between demodicosis and STAT1 GOF. However, immune characterization of these patients is lacking. Here, we present a retrospective analysis of patients with immune dysregulation and STAT1 GOF who presented with facial and ocular demodicosis. In-depth immune phenotyping and functional studies were used to characterize the patients. We identified five patients (three males) from two non-consanguineous Jewish families. The mean age at presentation was 11.11 (range\u00a0=\u00a00.58\u201324) years. Clinical presentation included CMCC, chronic demodicosis and immune dysregulation in all patients. Whole-exome and Sanger sequencing revealed a novel heterozygous c.1386C&amp;gt;A; p.S462R STAT1 GOF mutation in four of the five patients. Immunophenotyping demonstrated increased phosphorylated signal transducer and activator of transcription in response to interferon-\u03b1 stimuli in all patients. The patients also exhibited decreased T cell proliferation capacity and low counts of interleukin-17-producing T cells, as well as low forkhead box protein 3+ regulatory T cells. Specific antibody deficiency was noted in one patient. Treatment for demodicosis included topical ivermectin and metronidazole. Demodicosis may indicate an underlying primary immune deficiency and can be found in patients with STAT1 GOF. Thus, the management of patients with chronic demodicosis should include an immunogenetic evaluation.<\/jats:p>","DOI":"10.1111\/cei.13636","type":"journal-article","created":{"date-parts":[[2021,6,11]],"date-time":"2021-06-11T12:22:37Z","timestamp":1623414157000},"page":"56-67","source":"Crossref","is-referenced-by-count":9,"title":["Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of <i>Signal transducer and activator of transcription (STAT)1<\/i> gain-of-function"],"prefix":"10.1093","volume":"206","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3188-2707","authenticated-orcid":false,"given":"Oded","family":"Shamriz","sequence":"first","affiliation":[{"name":"Allergy and Clinical Immunology Unit, Department of Medicine, Hadassah Medical Organization, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel"},{"name":"The Lautenberg Center for Immunology and Cancer Research, Institute of Medical Research Israel-Canada, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atar","family":"Lev","sequence":"additional","affiliation":[{"name":"Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"},{"name":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amos J","family":"Simon","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"},{"name":"Sheba Cancer Research Center and Institute of Hematology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ortal","family":"Barel","sequence":"additional","affiliation":[{"name":"Sheba Cancer Research Center and Institute of Hematology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel"},{"name":"The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel"},{"name":"Sheba Medical Center, Wohl Institute of Translational Medicine, Ramat Gan, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisheva","family":"Javasky","sequence":"additional","affiliation":[{"name":"Sheba Cancer Research Center and Institute of Hematology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel"},{"name":"The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel"},{"name":"Sheba Medical Center, Wohl Institute of Translational Medicine, Ramat Gan, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigal","family":"Matza-Porges","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Institute for Medical Research the Hebrew University of Jerusalem, Jerusalem, Israel"},{"name":"Department of Biotechnology, Hadassah Academic College, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adir","family":"Shaulov","sequence":"additional","affiliation":[{"name":"Department of Hematology, Hadassah Medical Organization, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zev","family":"Davidovics","sequence":"additional","affiliation":[{"name":"Gastroenterology Unit, Department of Pediatrics, Hadassah Medical Organization, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ori","family":"Toker","sequence":"additional","affiliation":[{"name":"Allergy and Clinical Immunology Unit, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raz","family":"Somech","sequence":"additional","affiliation":[{"name":"Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"},{"name":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abraham","family":"Zlotogorski","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Service, Department of Dermatology, Hadassah Medical Organization, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vered","family":"Molho-Pessach","sequence":"additional","affiliation":[{"name":"Pediatric Dermatology Service, Department of Dermatology, Hadassah Medical Organization, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuval","family":"Tal","sequence":"additional","affiliation":[{"name":"Allergy and Clinical Immunology Unit, Department of Medicine, Hadassah Medical Organization, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,7,12]]},"reference":[{"key":"2021121100105598600_cei13636-bib-0001","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/s10875-015-0214-9","article-title":"The extended clinical phenotype of 26 patients with chronic mucocutaneous candidiasis due to gain-of-function mutations in STAT1","volume":"36","author":"Depner","year":"2016","journal-title":"J Clin 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