探讨CYBB基因半合子突变所致儿童慢性肉芽肿病的临床诊断特征。

回顾性分析2021年4月30日吉林大学第一医院收治的1例儿童慢性肉芽肿病的临床资料，结合文献总结其临床诊断特征。

患儿男性，11岁，因"间断发热22 d，双踝关节痛5 d"入院。患儿自出生后10余年间反复呼吸道感染，并有多次皮肤疖痈、结核感染、肝脓肿等感染病史，经抗感染治疗后均好转。最终经基因检测确诊CYBB基因半合子突变所致慢性肉芽肿病。

对于自婴幼儿时期反复呼吸道感染的患儿，临床儿科医生应警惕慢性肉芽肿病，应积极明确病因以尽早改善患儿预后。

To explore the clinical diagnostic features of chronic granulomatous disease(CGD) caused by a hemizygous mutation in the CYBB gene.

The clinical data of a child with CGD admitted to the First Hospital of Jilin University on April 30, 2021, were analyzed retrospectively, and the clinical diagnostic characteristics were summarized based on literature.

The 11-year-old male patient was admitted with " intermittent fever for 22 days and double ankle pain for 5 days". The patient had a history of repeated respiratory tract infections for more than 10 years after birth, along with multiple history of infections such as skin furuncles, tuberculosis infection, liver abscess, and other infections, all of which improved after anti-infection treatment. Finally, the results of the genetic analysis proved that CGD was caused by a hemizygous mutation in the CYBB gene.

Clinical physicians should be watchful for CGD in children who have had recurrent respiratory tract infections since infancy and should actively discover the etiology to improve the children′s prognosis as soon as possible.