Abstract: Objective　To explore the clinical characteristics，causes of diagnostic delay and treatment response of nontuberculous mycobacterial（NTM） pulmonary disease in children with immunodeficiency，and provide reference for early clinical identification，diagnosis and treatment. Methods　Clinical data of 4 children with immunodeficiency complicated with NTM pulmonary disease admitted to the Department of Respiratory Medicine of Beijing Children’s Hospital from January 2019 to 
December 2025 were collected and retrospectively analyzed. Results　Among the 4 children，3 were male and 1 female，with onset age of 4-14 years. Underlying diseases included GATA2 deficiency，hyper-IgM syndrome after hematopoietic stem cell 
transplantation（HSCT），chronic granulomatous disease（CGD） and autoimmune lymphoproliferative syndrome（ALPS）. NTM strains were Mycobacterium kansasii，Mycobacterium abscessus and Mycobacterium avium-intracellulare complex. All children were misdiagnosed for 1-9 months before confirmation. All improved after anti-NTM treatment；during 2-60 months of followup，1 case had no recurrence after 24 months of standard treatment and drug withdrawal，1 case was lost to follow-up after 12 months of treatment，and the rest two cases remained stable under follow-up. Conclusion　The children with immunodeficiency are at high risk of NTM lung disease，which can be an important diagnostic clue for potential immunodeficiency. Metagenomic next-generation sequencing（mNGS） can increase the early diagnostic rate，and individualized anti-infective therapy combined with reasonable immunomodulatory therapy can improve prognosis.

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摘要： 目的　探讨伴免疫缺陷患儿非结核分枝杆菌（NTM）肺病的临床特点、诊断延迟原因及治疗反应，为临床早期识别和诊治提供参考。方法　收集2019年1月至2025年12月北京儿童医院呼吸中心收治的4例免疫缺陷合并 NTM 肺病患儿的临床资料，进行回顾性分析。结果　4例患儿中男3例，女1例，发病年龄4~14岁。基础疾病包括 GATA2缺陷、高免疫球蛋白（Ig）M 综合征造血干细胞移植（HSCT）后、慢性肉芽肿病（CGD）、自身免疫性淋巴增殖综合征（ALPS）；NTM 菌种包括堪萨斯分枝杆菌、脓肿分枝杆菌、胞内分枝杆菌。4例患儿确诊前均被误诊，误诊时间1~9个月。经抗 NTM 治疗后均好转，随访2~60个月。1例规范治疗24个月停药后无复发，1例治疗12个月失访，余2例病情稳定。结论　免疫缺陷患儿是 NTM 肺病高危人群；NTM 肺病可作为潜在免疫缺陷的重要诊断线索。宏基因组二代测序（mNGS）可提高早期诊断率，个体化抗感染治疗及合理免疫调节治疗可改善预后。

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