{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T11:28:44Z","timestamp":1773401324854,"version":"3.50.1"},"reference-count":31,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T00:00:00Z","timestamp":1639958400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p>Heterozygous missense <jats:italic>STAT1<\/jats:italic> mutations leading to a gain of function (GOF) are the most frequent genetic cause of chronic mucocutaneous candidiasis (CMC). We describe the case of a patient presenting a new GOF mutation of <jats:italic>STAT1<\/jats:italic> with the clinical symptoms of CMC, recurrent pneumonia, and persistent central erythema with papulopustules with ocular involvement related to rosacea-like demodicosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genetic analysis <jats:italic>via<\/jats:italic> targeted next-generation sequencing (NGS; NGS panel DIPAI v.1) exploring the 98 genes most frequently involved in primary immunodeficiencies, including <jats:italic>STAT1<\/jats:italic>, was performed to identify an underlying genetic defect.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>NGS identified a novel variant of <jats:italic>STAT1<\/jats:italic>, c.884C&amp;gt;A (exon 10), p.T295Y, not previously described. This variant was found to be gain of function using an <jats:italic>in vitro<\/jats:italic> luciferase reporter assay. Rosacea-like demodicosis was confirmed by substantial <jats:italic>Demodex<\/jats:italic> proliferation observed <jats:italic>via<\/jats:italic> the microscopic examination of a cutaneous sample. A review of literature retrieved 20 other cases of <jats:italic>STAT1<\/jats:italic> GOF mutations associated with early-onset rosacea-like demodicosis, most with ocular involvement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We describe a new <jats:italic>STAT1<\/jats:italic> GOF mutation associated with a phenotype of CMC and rosacea-like demodicosis. Rosacea-like demodicosis appears as a novel and important clinical phenotype among patients with <jats:italic>STAT1<\/jats:italic> GOF mutation.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fimmu.2021.760019","type":"journal-article","created":{"date-parts":[[2021,12,20]],"date-time":"2021-12-20T06:57:06Z","timestamp":1639983426000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":17,"title":["Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association"],"prefix":"10.3389","volume":"12","author":[{"given":"Martin","family":"Martinot","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne 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