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  • Novel STAT1 mutation in a paediatric case of chronic mucocutaneous candidiasis complicated by primary hypothyroidism: clinical presentation, genetic analysis and prognostic implications

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Genetics
Novel STAT1 mutation in a paediatric case of chronic mucocutaneous candidiasis complicated by primary hypothyroidism: clinical presentation, genetic analysis and prognostic implications
  1. Feifei Hou1,
  2. Tianyu Zhang2,
  3. Fangman Chen3 and
  4. Lu Jiang1
  1. 1State 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
  2. 2State 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
  3. 3Stomatology 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
  1. Correspondence to Dr Lu Jiang; jianglu{at}scu.edu.cn

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 the STAT1 gene (exon 11, c.972C>G, p.Cys324Trp), adding to the existing literature on STAT1 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.

  • dermatology
  • genetics
  • dentistry and oral medicine

https://doi.org/10.1136/bcr-2023-258133

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    Footnotes

    • FH and TZ contributed equally.

    • Contributors FH and TZ were directly involved in the patient’s care. FC, although not directly involved in patient care, made substantial contributions to the manuscript along with FH and TZ. These contributions included drafting of the text, sourcing and editing of clinical images, investigating results, drawing original diagrams and algorithms and giving final approval of the manuscript. LJ is the clinician in charge of the clinical care of the patient, who supervised the preparation of the manuscript, was responsible for obtaining informed consent from the patient/guardian/family members and is responsible for the overall integrity of the content of the manuscript.

    • Funding National Natural Science Foundation of China (82171809). Clinical and Translational Medicine Research Foundation of Chinese Academy of Medical Sciences (2022-I2M-C&T-B-111). Research and Develop Program, West China Hospital of Stomatology Sichuan University (RD-03-202307).

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.