暗色丝孢霉病是指由暗色真菌引起的皮肤、皮下组织乃至深部组织脏器的感染。本研究探讨1例由皮肤及皮下组织暗色丝孢霉病逐渐进展为播散性暗色丝孢霉病患者的遗传背景及其抗真菌免疫功能。收集患者10余年病情进展的临床资料及真菌检查结果，进行临床资料及真菌学研究；对外周血DNA采用Sanger测序，进行遗传学研究；提取患者及正常人外周血单个核细胞(peripheral blood mononuclear cell，PBMC)，采用蛋白免疫印迹法、流式细胞术、化学发光法、酶联免疫吸附试验等进行免疫学研究。结果显示，患者胱天蛋白酶募集域蛋白9(caspase recruitment domain-containing protein 9，CARD9)基因存在新的复合杂合错义突变(p.R35Q和p.E81K)，CARD9蛋白表达正常，外周血淋巴细胞(peripheral blood lymphocyte，PBL)Th1和Th17细胞比例均降低；PBMC抗疣状瓶霉感染存在天然及适应性免疫缺陷。本研究首次报道1例播散性暗色丝孢霉病患者存在CARD9基因新发错义突变，同时发现患者PBMC抗真菌的天然及适应性免疫存在缺陷，提示CARD9蛋白在暗色丝孢霉病发病中可能发挥重要作用。

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.