第七届北京罕见病学术大会暨2019京津冀罕见病学术大会征文（187）

1.国家儿童医学中心首都医科大学附属北京儿童医院，感染内科，100045

2.国家儿童医学中心首都医科大学附属北京儿童医院儿科研究所，免疫研究室

3.国家儿童医学中心首都医科大学附属北京儿童医院儿科研究所，病毒研究室

4.北京协和医学院，病原生物学研究所

苗亦靑1，朱亮1，陈天明1，胡惠丽1，任丽丽4，韩连连4，董晓婧4，牟文君2，段亚丽3，桂晋刚2，谢正德3，王建伟4，刘钢1

通讯作者：刘钢1

Background: Invasive candidiasis is a severe and sometimes life-threatening fungal infection. It comprises both candidemia and deep-seated tissue candidiasis， characterized by hematogenous dissemination or direct inoculation of candida species to a sterile site. The disease mainly affects patients with known immunosuppression， but it may also present in those with primary immunodeficiency arising from genetic defects. Invasive candidiasis of the central nervous system (CNS) is rare， but an elevated incidence in CARD9-deficient patients has been observed， possibly because of impaired neutrophil recruitment to the site of infection due to the lack of chemoattractants.

Methods: We studied the clinical features and imaging findings of invasive candidiasis (CNS， vertebral spine and knee joint) in an 11-year-old boy who has been otherwise healthy. In search for a cause of the susceptibility， gene sequencing of 6110 genetic diseases was performed.

Results: The patient presented with multiple bone destructions， recurrent fever， irritability and blurred vision. Biopsy and exudate culture confirmed the growth of Candida albicans. MRA scan of the brain showed cerebral vasculitis， which is rare in the case of CNS infections. Anti-fungal treatment was effective. The genetic results showed an inherited compound heterozygous CARD9 mutation (c.246C>A and c.1497delT) that has never been reported before. Both mutations were predicted to be pathogenic.

Conclusions: Invasive candidiasis in patients without known immunosuppression merit evaluation for CARD9 deficiency. Patients with CARD9-associated Candida infections require thorough testing， including CSF analysis.