目的 探讨慢性肉芽肿病的致病机制以及诊断。方法 回顾性分析1 例慢性肉芽肿病患儿的临床特征及实验室检查；提取患儿及父母外周血基因组DNA，用Agilent SureSelect方法外显子捕获，Illumina测序平台进行高通量测序。结果 患儿有反复感染史，伴肝脏肿大和肝功能异常，抗感染及对症治疗效果不佳。二代测序显示患儿CYBA基因存在c.7C > T（p.Gln3*）纯合突变，其母为该位点杂合，父亲可能存在大片段杂合缺失，其他候选基因测序分析未发现明显异常。结论 确诊患儿为慢性肉芽肿病，CYBA基因突变是其致病原因。

Objective To explore the pathogenesis and diagnosis of chronic granulomatous disease. Methods Clinical features and laboratory examination results of a child with chronic granulomatous disease were retrospectively analyzed. Genome DNA was extracted from peripheral blood of the child and his parents. The high-throughput sequencing was performed by Illumina sequencing platform, using the Agilent SureSelect exome capture method. Results The child had recurrent infections along with liver enlargement and dysfunction. The anti-infection and symptomatic treatment were unsatisfactory. Gene sequencing analysis revealed a homozygous point mutation (c.7C > T, p.Gln3*) in CYBA gene. His mother had the same heterozygous mutation in this locus, and his father had a large fragment heterozygous deletions. No other candidate gene mutations were identified. Conclusions The diagnosis of chronic granulomatous disease is confirmed in this child. It is caused by CYBA gene mutation.