AUTHOR=Huang Chen , Deng Weiwei , Zhang Yi , Zhang Kai , Ma Yubo , Song Yinggai , Wan Zhe , Wang Xiaowen , Li Ruoyu 

TITLE=CARD9 deficiency predisposing chromoblastomycosis: A case report and comparative transcriptome study

JOURNAL=Frontiers in Immunology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/immunology/articles/10.3389/fimmu.2022.984093

DOI=10.3389/fimmu.2022.984093

ISSN=1664-3224

ABSTRACT=<p><italic>CARD9</italic> 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 <italic>Phialophora expanda</italic>, who harbored <italic>CARD9</italic> mutation. Through a series of <italic>in vivo</italic> and <italic>in vitro</italic> studies, especially a comparative transcriptome study, we compared this case with our former patient suffering from phaeohyphomycosis caused by <italic>Phialophora americana</italic>. We showed that <italic>P. expanda</italic> is prone to forming sclerotic bodies both <italic>in vitro</italic> and in <italic>Card9</italic> knockout mice, and has a stronger immunogenicity than <italic>P. americana</italic>. These data preliminary demonstrated that besides host defense, fungal specificity also contributed to the clinical phenotype in <italic>CARD9</italic> deficient patients with dematiaceous fungal infections.</p>