CARD9 mutations and related immunological research of one case with disseminated phaeohyphomycosis
ZHANG Ruijun, WANG Xiaowen, WAN Zhe, LI Ruoyu
Department of Dermatology and Venereology, Peking University First Hospital, Research Center for Medical Mycology, Peking University, Beijing Key Laboratory of Molecular Diagnosis of Dermatoses, Beijing 100034, China
Abstract:Phaeohyphomycosis is a collection of superficial cutaneous, subcutaneous and(or) systemic infections caused by diverse dematiaceous fungi. The clinical records and clinical samples collected from a patient with a diagnosis of skin and subcutaneous phaeohyphomycosis progressed to disseminated phaeohyphomycosis were subjected to assays for potential genetic and immune defects that might associate with the infection. Two new compound heterozygous missense mutations on caspase recruitment domain-containing protein 9 gene (CARD9) (p.R35Q and p.E81K) were detected. Compared with the healthy donors, the proportions of Th1 and Th17 cells in the patient’s peripheral blood lymphocytes (PBLs) were low and the patient’s peripheral blood mononuclear cells (PBMCs) had impaired innate and adaptive immune responses against Phialophora verrucosa (P. verrucosa). The results indicated that CARD9 protein may play an important role in the pathogenesis of phaeohyphomycosis.
张瑞珺,王晓雯,万喆,李若瑜. 播散性暗色丝孢霉病患者CARD9突变及相关免疫学研究[J]. 微生物与感染, 2017, 12(1): 14-23.
ZHANG Ruijun, WANG Xiaowen, WAN Zhe, LI Ruoyu. CARD9 mutations and related immunological research of one case with disseminated phaeohyphomycosis. JOURNAL OF MICROBES AND INFECTIONS, 2017, 12(1): 14-23.