Ulusoy Ezgi, Karaca Neslihan Edeer, Aksu Güzide, Çavuşoğlu Cengiz, Kütükçüler Necil
Department of Pediatrics, Pediatric Allergy and Immunology, Ege University Faculty of Medicine, Izmir, Turkey.
Department of Clinical Microbiology, Ege University, Faculty of Medicine, Izmir, Turkey.
Turk Pediatri Ars. 2017 Sep 1;52(3):138-144. doi: 10.5152/TurkPediatriArs.2017.5240. eCollection 2017 Sep.
Susceptibility to mycobacterial diseases is observed in some primary immunodeficiency diseases. In this study, we aimed to evaluate mycobacterial infections in primary immunodeficiency diseases.
Patients under follow-up by Ege University Pediatric Immunology Department for severe combined and combined immunodeficiencies, interleukin 12/ interferon gamma receptor deficiency, nuclear factor kappa-beta essential modulator deficiency and chronic granulomatosis disease were evaluated retrospectively in terms of the frequency and characteristics of mycobacterial infections using a questionnaire form for demographic properties, clinical features and laboratory tests.
A diagnosis of mycobacterial infection was made clinically in a total of 25 patients including five (11.3%) of 45 patients who had severe combined immune deficiency, 12 (52.3%) of 21 patients who had chronic granulomatous disease, four patients (100%) who had interferon gamma receptor 2 partical deficiency, two patients (100%) who had interleukin 12 receptor beta 1 deficiency and one patient (100%) who had nuclear factor kapa-beta essential modulator deficiency. Mycobacterium strain could be typed in 14 (33%) of these 25 patients including , and . All patients were treated with anti-tuberculosis therapy. Thirty-six percent of these 25 patients underwent hematopoietic stem cell transplantation. Eight patients (five before, three after transplantation) died.
Non-tuberculosis mycobacteria including mainly were observed with a higher rate compared to Mycobacterium tuberculosis in primary immunodeficiencies, especially in those affecting the interleukin 12/interferon gamma pathway. Early diagnosis of primary immunodeficiencies with neonatal screening program and preventing administration of the Bacille Calmette-Guerin vaccine in these patients is important.
在一些原发性免疫缺陷病中可观察到对分枝杆菌病的易感性。在本研究中，我们旨在评估原发性免疫缺陷病中的分枝杆菌感染情况。
回顾性评估伊兹密尔大学儿科免疫学部门随访的重症联合免疫缺陷病、联合免疫缺陷病、白细胞介素12/干扰素γ受体缺陷病、核因子κB必需调节子缺陷病和慢性肉芽肿病患者，使用一份关于人口统计学特征、临床特征和实验室检查的问卷来评估分枝杆菌感染的频率和特征。
共有25例患者临床诊断为分枝杆菌感染，其中45例重症联合免疫缺陷病患者中有5例（11.3%），21例慢性肉芽肿病患者中有12例（52.3%），干扰素γ受体2亚基缺陷病患者4例（100%），白细胞介素12受体β1缺陷病患者2例（100%），核因子κB必需调节子缺陷病患者1例（100%）。在这25例患者中的14例（33%）可鉴定分枝杆菌菌株，包括……。所有患者均接受抗结核治疗。这25例患者中有36%接受了造血干细胞移植。8例患者死亡（5例在移植前，3例在移植后）。
在原发性免疫缺陷病中，主要包括……的非结核分枝杆菌的检出率高于结核分枝杆菌，尤其是在影响白细胞介素12/干扰素γ途径的疾病中。通过新生儿筛查程序对原发性免疫缺陷病进行早期诊断，并避免在这些患者中接种卡介苗很重要。
