Jia Jihang, Zhu Yu, Guo Qin, Wan Chaomin
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, China.
Front Pediatr. 2022 Feb 28;10:761265. doi: 10.3389/fped.2022.761265. eCollection 2022.
All members of the genus are collectively labeled as "non-tuberculous mycobacterium" (NTM), with the exception of the complex and . Recently, the incidence of NTM infection and number of cases have been increasing, but their identification remains difficult in some countries. Usually, NTM infections and diseases are associated with primary immunodeficiency diseases (PIDs), and their prognoses can be improved with a timely diagnosis and appropriate treatment. Here, we report a case of a 3-year-old boy with disseminated NTM disease () and interferon-γ receptor 1 () deficiency. He presented with skin and soft-tissue disease, disseminated osteomyelitis, and pulmonary disease. Initially, we suspected an infection due to the Bacillus Calmette-Guérin vaccine but later suspected Langerhans cell histiocytosis. Following oral treatment of azithromycin, rifampicin, and ethambutol, his condition improved progressively according to clinical and imaging manifestations. This case highlights the importance of early identification of the pathogen in a timely prescription of specific treatments in PIDs patients. We also discuss our experience of treatment of disease in patients with deficiency.
该属的所有成员被统称为“非结核分枝杆菌”（NTM），但结核分枝杆菌复合群和麻风分枝杆菌除外。最近，NTM感染的发病率和病例数一直在增加，但在一些国家，对它们的识别仍然困难。通常，NTM感染和疾病与原发性免疫缺陷病（PID）相关，及时诊断和适当治疗可改善其预后。在此，我们报告一例3岁男孩患有播散性NTM病（）和干扰素-γ受体1（）缺陷。他表现为皮肤和软组织疾病、播散性骨髓炎和肺部疾病。最初，我们怀疑是卡介苗感染，但后来怀疑是朗格汉斯细胞组织细胞增多症。口服阿奇霉素、利福平和乙胺丁醇治疗后，根据临床和影像学表现，他的病情逐渐改善。该病例强调了在PID患者中及时识别病原体以便及时开具特定治疗药物的重要性。我们还讨论了在有缺陷患者中治疗疾病的经验。
