A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1
The present study reports a pediatric patient with CMC who carries a novel GOF mutation in STAT1. This mutation may impair IL-17 immunity, which could potentially increase the patient's susceptibility to CMC. However, further research is needed to elucidate the underlying mechanism. Although ruxolitinib shows potential as a therapeutic option for CMC, its clinical efficacy requires further validation through experimental studies and long-term patient follow-up.
Authors
- Wei‐Te Lei (ORCID: https://orcid.org/0000-0003-1677-8901)
- Jie Wu (ORCID: https://orcid.org/0000-0001-6326-9582)
- Xiaodong Liu (ORCID: https://orcid.org/0000-0002-5915-4499)
- Ningning Dang (ORCID: https://orcid.org/0000-0002-5139-0876)
- Fengming Li (ORCID: https://orcid.org/0000-0003-2263-1957)
- Cheng‐Lung Ku (ORCID: https://orcid.org/0000-0002-0643-2256)
- Hong Wang (ORCID: https://orcid.org/0000-0003-1792-4683)
- Yang Xiang (ORCID: https://orcid.org/0000-0002-7324-2954)
- Jing Guo (ORCID: https://orcid.org/0000-0002-6616-2585)
- Shuo Sun
- Chia‐Chi Lo
Institutions
- Chang Gung University of Science and Technology (TW)
- Chang Gung University (TW)
- Mackay Memorial Hospital (TW)
- Chang Gung Memorial Hospital (TW)
- Taoyuan Chang Gung Memorial Hospital (TW)
- Shandong Provincial Hospital (CN)
- Shandong First Medical University (CN)
Publication Details
- Journal
- Journal of Clinical Immunology
- Published
- 2025-09-30
- DOI
- https://doi.org/10.1007/s10875-025-01937-4
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- China Postdoctoral Science Foundation
- Natural Science Foundation of Shandong Province