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STAT1 gain-of-function and chronic demodicosis |
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| Authors: | Vered Molho-Pessach MD Arnon Meltser BSc Adaia Kamshov MD Yuval Ramot MD MSc Abraham Zlotogorski MD |
| Affiliation: | 1. Department of Dermatology, Hadassah Medical Center, The Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel;2. The Center for Genetic Diseases of the Skin and Hair, Hadassah Medical Center, The Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel;3. Genoox, Tel Aviv, Israel;4. Department of Dermatology, Hadassah Medical Center, The Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel The Center for Genetic Diseases of the Skin and Hair, Hadassah Medical Center, The Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel |
| Abstract: | Heterozygous STAT1 gain-of-function (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 STAT1, 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 STAT1-GOF mutation. We suggest that chronic demodicosis is an under-recognized feature of the immune dysregulation disorder caused by STAT1 gain-of-function mutations. |
| Keywords: | blepharitis demodicosis gain-of-function mutation papulopustular rosacea STAT1 |