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CARD9 deficiency predisposing chromoblastomycosis: A case report and comparative transcriptome study
Chen Huang1,2,3,4, Weiwei Deng1,2,3,4, Yi Zhang1,2,3,4
1Department of Dermatology and Venerology, Peking University First Hospital, Beijing, China.
Insights
Card9 mutations increase susceptibility to fungal infections. This study reveals that fungal species, like Phialophora expanda, influence disease presentation in CARD9-deficient individuals.
Area of Science:
- Medical Mycology
- Immunogenetics
Background:
- Card9 (Caspase Recruitment Domain-Containing Protein 9) mutations are linked to susceptibility to phaeohyphomycosis, a fungal infection caused by dematiaceous fungi.
- Chromoblastomycosis is a distinct form of subcutaneous mycosis caused by dematiaceous fungi.
Observation:
- This study reports the first case of chromoblastomycosis caused by Phialophora expanda in a patient with a CARD9 mutation.
- Comparative in vivo and in vitro studies were conducted, including transcriptome analysis, comparing this case with a previous patient with phaeohyphomycosis caused by Phialophora americana.
Findings:
- Phialophora expanda demonstrates a propensity for forming sclerotic bodies in vitro and in Card9 knockout mice.
- Phialophora expanda exhibits stronger immunogenicity compared to Phialophora americana.
- Fungal species-specific characteristics contribute to the clinical manifestations in CARD9-deficient patients with dematiaceous fungal infections.
Implications:
- Understanding fungal specificity is crucial for predicting disease outcomes in CARD9-deficient individuals.
- This research highlights the interplay between host genetic factors (CARD9 mutations) and fungal pathogen traits in determining the clinical phenotype of mycoses.
- Further research into fungal immunogenicity can inform therapeutic strategies for invasive fungal infections in immunocompromised patients.
Abstract:
CARD9 mutations are known to predispose patients to phaeohyphomycosis caused by different dematiaceous fungal species. In this study, we report for the first time a patient of chromoblastomycosis caused by Phialophora expanda, who harbored CARD9 mutation. Through a series of in vivo and in vitro studies, especially a comparative transcriptome study, we compared this case with our former patient suffering from phaeohyphomycosis caused by Phialophora americana. We showed that P. expanda is prone to forming sclerotic bodies both in vitro and in Card9 knockout mice, and has a stronger immunogenicity than P. americana. These data preliminary demonstrated that besides host defense, fungal specificity also contributed to the clinical phenotype in CARD9 deficient patients with dematiaceous fungal infections.
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