Parvaneh N, Pourakbari B, Rezaei N, Omidvar A, Sabouni F, Mahmoudi S, Khotaei G, Mamishi S
Department of Infectious Disease, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Pediatric Infectious Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Pediatric Infectious Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Allergol Immunopathol (Madr). 2015 Sep-Oct;43(5):456-60. doi: 10.1016/j.aller.2014.05.008. Epub 2014 Sep 6.
Diagnosis of specific molecular defects of Mendelian susceptibility to mycobacterial diseases (MSMD) patients is important with respect to their clinical outcomes and their response to therapy. The aim of this study was to perform functional tests on blood samples of a group of patients who were suspected of having MSMD.
This study was performed on 11 cases who had mycobacterial infections and suspected MSMD. Whole blood cell culture was performed in presence of different stimulators. The supernatants were assayed for IFN-γ, IL-12p40 by ELISA method.
All patients presented with complications of BCG vaccine in the form of localised lymphadenitis or disseminated BCG infection and chronic mycobacterial osteomyelitis. Infections with Salmonella species occurred in two patients. In-vitro studies showed that 10 cases had impaired response to IL-12. However, the baseline levels of IL-12p40 were normal, while one of our patients may have a potential IFN-γ signalling defect or an IL-12p40 defect.
Early detection of MSMD and commencing of appropriate combination therapy could prevent severe or even fatal complications of uncontrolled mycobacterial infections.
孟德尔遗传性分枝杆菌病易感性（MSMD）患者特定分子缺陷的诊断对于其临床结局及治疗反应具有重要意义。本研究的目的是对一组疑似患有MSMD的患者的血液样本进行功能测试。
本研究对11例患有分枝杆菌感染且疑似MSMD的患者进行。在不同刺激物存在的情况下进行全血细胞培养。通过酶联免疫吸附测定法（ELISA）检测上清液中的γ干扰素（IFN-γ）、白细胞介素12 p40（IL-12p40）。
所有患者均出现卡介苗接种并发症，表现为局部淋巴结炎或播散性卡介苗感染以及慢性分枝杆菌骨髓炎。两名患者发生沙门氏菌感染。体外研究表明，10例患者对白细胞介素12的反应受损。然而，白细胞介素12 p40的基线水平正常，而我们的一名患者可能存在潜在的γ干扰素信号缺陷或白细胞介素12 p40缺陷。
早期检测MSMD并开始适当的联合治疗可预防未控制的分枝杆菌感染的严重甚至致命并发症。
