目的 分析STAT基因变异患儿的临床特征，并探索相应的免疫治疗策略。 方法 回顾性总结2015年10月—2024年10月广州医科大学附属第一医院儿科收治的10例STAT基因变异患儿的临床资料，对部分难治性病例实施探索性免疫治疗，并评估治疗前后症状、影像学表现及细胞因子水平的变化。 结果 10例患儿的主要临床表现为出生后反复出现皮疹（7/10）、咳嗽（8/10）、喘息（5/10）、咳痰（4/10）和脓涕（4/10）。基因分型结果显示，STAT1基因功能缺失（loss-of-function, LOF）杂合变异1例，STAT3基因LOF杂合变异4例，STAT3基因功能获得（gain-of-function, GOF）杂合变异5例。2例STAT3基因LOF变异患儿接受奥马珠单抗治疗后，白介素-6水平下降，临床症状及影像学表现均有改善；3例STAT3基因GOF变异患儿接受甲泼尼龙（每天0.5 mg/kg）治疗后病情得到有效控制；2例STAT3基因GOF变异患儿接受JAK抑制剂治疗后症状亦有所缓解。 结论 对反复皮疹伴呼吸道化脓性感染的患儿，应考虑STAT基因变异筛查。常规治疗无效时，靶向免疫治疗可能改善临床预后。

Objective To investigate the clinical features of children with STAT gene mutations, and to explore corresponding immunotherapy strategies. Methods A retrospective analysis was performed for the clinical data of 10 children with STAT gene mutations who were admitted to the Department of Pediatrics of the First Affiliated Hospital of Guangzhou Medical University, from October 2015 to October 2024. Exploratory immunotherapy was implemented in some refractory cases, and the changes in symptoms, imaging manifestations, and cytokine levels were assessed after treatment. Results For the 10 children, the main clinical manifestations were recurrent rash since birth (7/10), cough (8/10), wheezing (5/10), expectoration (4/10), and purulent nasal discharge (4/10). Genotyping results showed that there was one child with heterozygous loss-of-function (LOF) mutation in the STAT1 gene, four children with heterozygous LOF mutation in the STAT3 gene, and five children with heterozygous gain-of-function (GOF) mutation in the STAT3 gene. Two children with LOF mutation in the STAT3 gene showed decreased interleukin-6 levels and improved clinical symptoms and imaging findings after omalizumab treatment. Three children with GOF mutation in the STAT3 gene achieved effective disease control after treatment with methylprednisolone (0.5 mg/kg per day). Two children with GOF mutation in the STAT3 gene received treatment with JAK inhibitor and then showed some improvement in symptoms. Conclusions STAT gene mutation screening should be considered for children with recurrent rash and purulent respiratory tract infections. Targeted immunotherapy may improve prognosis in patients with no response to conventional treatment.