{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T12:54:07Z","timestamp":1764939247029,"version":"3.46.0"},"reference-count":16,"publisher":"PAGEPress Publications","issue":"4","license":[{"start":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T00:00:00Z","timestamp":1719964800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatol Reports"],"abstract":"<jats:p>Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency condition caused by a genetic abnormality that increases the risk of recurrent and persistent skin, nail, and mucous membrane infections with Candida species, typically Candida albicans. Signal transducer and activator of transcription 1 (STAT1) gene mutation is a genetic trigger that causes CMC, which increases the risk of infections, multisystem disorders, and cancer susceptibility. We describe the first case of a Saudi female patient with clinical features of CMC with an underlying (STAT1) gene mutation.<\/jats:p>","DOI":"10.4081\/dr.2024.9939","type":"journal-article","created":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T05:59:27Z","timestamp":1719986367000},"source":"Crossref","is-referenced-by-count":0,"title":["Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report"],"prefix":"10.4081","volume":"16","author":[{"given":"Abdullah","family":"Alakeel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-6577-6463","authenticated-orcid":false,"given":"Khalid","family":"Nabil Nagshabandi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0433-4385","authenticated-orcid":false,"given":"Abdulaziz","family":"Alsalhi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2549","published-online":{"date-parts":[[2024,7,3]]},"reference":[{"key":"21732","doi-asserted-by":"crossref","unstructured":"Toubiana J, Okada S, Hiller J, et al. International STAT1 Gain-of-Function Study Group. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood 2016;127:3154-64.","DOI":"10.1182\/blood-2015-11-679902"},{"key":"21733","doi-asserted-by":"crossref","unstructured":"Puel A, Cypowyj S, Mar\u00f3di L, et al. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol 2012;12:616-22.","DOI":"10.1097\/ACI.0b013e328358cc0b"},{"key":"21734","unstructured":"Chandesris MO, Melki I, Natividad A, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore) 2012;91:e1-e19."},{"key":"21735","doi-asserted-by":"crossref","unstructured":"Van de Veerdonk FL, Plantinga TS, Hoischen A, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med 2011;365:54-61.","DOI":"10.1056\/NEJMoa1100102"},{"key":"21736","doi-asserted-by":"crossref","unstructured":"Depner M, Fuchs S, Raabe J, et al. The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. J Clin Immunol 2016;36:73-84.","DOI":"10.1007\/s10875-015-0214-9"},{"key":"21737","doi-asserted-by":"crossref","unstructured":"Carey B, Lambourne J, Porter S, Hodgson T. Chronic mucocutaneous candidiasis due to gain- of-function mutation in STAT1. Oral Dis 2019;25:684-692.","DOI":"10.1111\/odi.12881"},{"key":"21738","doi-asserted-by":"crossref","unstructured":"Boisson-Dupuis S, Kong XF, Okada S, et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol 2012;24:364-78.","DOI":"10.1016\/j.coi.2012.04.011"},{"key":"21739","doi-asserted-by":"crossref","unstructured":"Okada S, Asano T, Moriya K, et al. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy. J Clin Immunol 2020;40:1065-1081.","DOI":"10.1007\/s10875-020-00847-x"},{"key":"21740","doi-asserted-by":"crossref","unstructured":"Humbert L, Cornu M, Proust-Lemoine E, et al. Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1. Front Immunol 2018;9:2570.","DOI":"10.3389\/fimmu.2018.02570"},{"key":"21741","doi-asserted-by":"crossref","unstructured":"Plantinga TS, Johnson MD, Scott WK, et al. Human genetic susceptibility to Candida infections. Med Mycol 2012;50:785-94.","DOI":"10.3109\/13693786.2012.690902"},{"key":"21742","doi-asserted-by":"crossref","unstructured":"Milner JD, Holland SM. The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases. Nat Rev Immunol 2013;13:635-48.","DOI":"10.1038\/nri3493"},{"key":"21743","unstructured":"National Library of Medicine. Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome. Available from https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/RCV000133515\/"},{"key":"21744","unstructured":"National Library of Medicine. Immunodeficiency 31B. Available from https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/RCV000698604\/"},{"key":"21745","unstructured":"Vasilev T, Johnson M, Yaneva N, et al. Clinical Case of Cystic Fibrosis-like and APECED-like Syndrome due to Gain-of-Function Variant in STAT1. Available from https:\/\/abstracts.eurospe.org\/hrp\/0094\/hrp0094p2-109"},{"key":"21746","doi-asserted-by":"crossref","unstructured":"Eren Akarcan S, Ulusoy Severcan E, Edeer Karaca N. Gainof- Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies. Case Reports Immunol 2017;2017:2846928.","DOI":"10.1155\/2017\/2846928"},{"key":"21747","doi-asserted-by":"crossref","unstructured":"Solt\u00e9sz B, T\u00f3th B, Shabashova N, et al. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet 2013;50:567-78.","DOI":"10.1136\/jmedgenet-2013-101570"}],"container-title":["Dermatology Reports"],"original-title":[],"link":[{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/download\/9939\/9420","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/download\/9939\/9538","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/download\/9939\/9420","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T12:48:52Z","timestamp":1764938932000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/view\/9939"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,3]]},"references-count":16,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,11,21]]}},"URL":"https:\/\/doi.org\/10.4081\/dr.2024.9939","relation":{},"ISSN":["2036-7406","2036-7392"],"issn-type":[{"type":"electronic","value":"2036-7406"},{"type":"print","value":"2036-7392"}],"subject":[],"published":{"date-parts":[[2024,7,3]]}}}