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Genetic analysis revealed a novel de novo mutation in the <jats:italic>STAT1<\/jats:italic> gene (exon 11, c.972C&gt;G, p.Cys324Trp), adding to the existing literature on <jats:italic>STAT1<\/jats:italic> mutations, which account for approximately 53% of CMC cases. The identified mutation is predicted to have a more severe pathogenic impact based on PolyPhen-2 scoring. Our findings emphasise the importance of comprehensive genetic testing in CMC diagnosis and suggest that the specific mutation site may correlate with disease prognosis. The case underscores the need for vigilant monitoring and targeted therapeutic interventions, given the potential for poorer outcomes.<\/jats:p>","DOI":"10.1136\/bcr-2023-258133","type":"journal-article","created":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T12:10:42Z","timestamp":1703765442000},"page":"e258133","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Novel <i>STAT1<\/i> mutation in a paediatric case of chronic mucocutaneous candidiasis complicated by primary hypothyroidism: clinical presentation, genetic analysis and prognostic implications"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4125-3819","authenticated-orcid":false,"given":"Feifei","family":"Hou","sequence":"first","affiliation":[{"name":"State Key Laboratory of Oral Diseases, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Research Unit of Oral Carcinogenesis and Management, Chinese Academy of Medical Sciences, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianyu","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Diseases, Shaanxi Clinical Research Center for Oral Diseases, Department of Pediatric Dentistry, School of Stomatology, The Fourth Military Medical University, Shanxi, Xi'an, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fangman","family":"Chen","sequence":"additional","affiliation":[{"name":"Stomatology Hospital, School of Stomatology, Zhejiang University School of Medicine, Zhejiang Provincial Clinical Research Center for Oral Diseases, Key Laboratory of Oral Biomedical Research of Zhejiang Province, Cancer Center of Zhejiang University, zhejinag, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Jiang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Research Unit of Oral Carcinogenesis and Management, Chinese Academy of Medical Sciences, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, 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