摘要患者男性，28岁，入院前4年反复发热、咳嗽、咳痰，多次胸部CT检查提示实变为主，伴渗出、少量胸腔积液，每次治疗后病灶明显吸收，但半年内类似症状再发，胸部CT出现新的实变，每年于外院以肺结核、肺部感染住院诊疗2~3次，接受抗结核、抗感染等对症支持治疗后，上述症状能够缓解，但仍反复，最终通过全基因组测序，发现该患者位于X染色体上的 CYBB发生IVS7/DC7位点突变，明确诊断为慢性肉芽肿病。

abstractsWe reported a 28-year-old male patient who had been admitted to a local hospital for several times in the past four years because of recurrent fever and cough. Each chest CT scan during hospitalization showed consolidation accompanied by exudation and mild pleural effusion. After treatment, the consolidation apparently absorbed, but similar symptoms recurred within half a year, and the new consolidation appeared. For this reason, he was diagnosed with tuberculosis or bacterial pneumonia several times in other hospitals, and was hospitalized two to three times a year. Finally, he was diagnosed with chronic granulomatous disease (CGD) with CYBB gene mutation through whole-exome sequencing.