Allen-Manzur Jesús Gerardo, Espinosa-Padilla Sara Elva, Bustamante Jacinta, Blancas-Galicia Lizbeth, Mendieta-Flores Elizabeth
Instituto Mexicano del Seguro Social, Centro Médico Nacional La Raza, Hospital de Especialidades, Ciudad de México, México.
Rev Alerg Mex. 2020 Oct-Dec;67(4):401-407. doi: 10.29262/ram.v67i4.798.
Inborn errors of immunity manifest with a greater susceptibility to infections, autoimmunity, autoinflammatory diseases, allergies, or malignancies. One of these is the mendelian susceptibility to mycobacterial disease. The most frequent etiology is the complete autosomal recessive deficiency of the β1 subunit of the interleukin 12 receptor.
A female patient who, by the age of six months, started with a nodular lesion in the right shoulder and ipsilateral axillary adenitis after the bacillus Calmette-Guérin vaccine was applied. Later, she developed a cutaneous fistula in the anterior thorax, the inframammary region, and chronic recidivant suppurative lymphadenitis. A disseminated infection caused by Mycobacterium bovis was diagnosed, therefore, individualized pharmacological treatment was required due to failure with the primary treatment. The patient was diagnosed with deficiency in the β1 subunit of the interleukin 12 receptor at age six. During her last hospitalization, she presented fever, cough, and tachypnea, and SARS-CoV-2 was detected by quantitative polymerase chain reaction. The patient has had a favorable evolution.
In patients with disseminated infections caused by bacillus Calmette-Guérin vaccination or by environmental mycobacteria, there should be suspicion of an inborn error of immunity and the patient should be referred to a third level hospital for an early immunological assessment.
免疫缺陷病表现为对感染、自身免疫、自身炎症性疾病、过敏或恶性肿瘤更易感性增加。其中之一是孟德尔易感性分枝杆菌病。最常见的病因是白细胞介素12受体β1亚基完全性常染色体隐性缺陷。
一名女性患者,在接种卡介苗后6个月时,右肩部出现结节性病变及同侧腋窝淋巴结炎。后来,她在前胸、乳房下区域出现皮肤瘘管以及慢性复发性化脓性淋巴结炎。诊断为牛分枝杆菌播散性感染,由于初始治疗失败,因此需要个体化药物治疗。该患者6岁时被诊断为白细胞介素12受体β1亚基缺陷。在她最后一次住院期间,出现发热、咳嗽和呼吸急促,通过定量聚合酶链反应检测到SARS-CoV-2。该患者病情进展良好。
对于因卡介苗接种或环境分枝杆菌引起播散性感染的患者,应怀疑存在免疫缺陷病,患者应转诊至三级医院进行早期免疫学评估。