Abstract
This case report presents a young girl in her early childhood diagnosed with chronic mucocutaneous candidiasis (CMC) and primary hypothyroidism. Genetic analysis revealed a novel de novo mutation in theSTAT1gene (exon 11, c.972C>G, p.Cys324Trp), adding to the existing literature onSTAT1mutations, 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.
Funder
National Natural Science Foundation of China
Clinical and Translational Medicine Research Foundation of Chinese Academy of Medical Sciences
Research and Develop Program, West China Hospital of Stomatology Sichuan University