Pattern recognition receptors (PRRs), receptors of the innate immune system, are important in interaction with pathogens. Caspase Recruitment Domain-containing protein 9 (CARD9), a member of PRRs, is an intracellular adaptor protein important in fungal defense. CARD9 deficiency causes a rare primary immunodeficiency (PID) characterized by superficial and deep fungal infections. We report a 17 year-old female with a homozygous nonsense mutation in CARD9, who presented with severe cerebral fungal infection of the central nervous system. She was also found to have an heterozygous NLRP12 mutation, which may have had add-on effect on the severity of the infection.

模式识别受体（PRR）是先天免疫系统的受体，在与病原体的相互作用中很重要。含有半胱天冬酶募集结构域的蛋白9（CARD9）是PRR的成员，是一种在真菌防御中很重要的细胞内衔接蛋白。CARD9缺乏会导致罕见的原发性免疫缺陷（PID），其特征是浅表和深部真菌感染。我们报告了一名17岁的女性，在CARD9中有一个纯合性无意义突变，该患者出现了严重的中枢神经系统脑真菌感染。还发现她具有杂合的NLRP12突变，这可能对感染的严重程度产生附加影响。