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首页> 外文期刊>Iranian journal of public health. >Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children
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Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

机译：三个伊朗儿童因IL-12Rβ1缺乏而导致孟德尔易感分枝杆菌病

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Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response to it. Here, we want to introduce three cases including two siblings and one girl from two unrelated families with severe mycobacterial infections referred to Immunology, Asthma and Allergy Research Institute (IAARI), from 2013 to 2015; their MSMD was confirmed by both cytokine assessment and genetic analysis. Regarding the clinical features of the patients, cell proliferation against a mitogen and BCG antigen was ordered in a lymphocyte transformation test (LTT) setting. ELISA was performed for the measurement of IL-12p70 and IFN- γ in whole blood samples activated by BCG + recombinant human IFN-γ and BCG + recombinant human IL-12, respectively. In contrast to mitogen, the antigen-dependent proliferation activity of the patients’ leukocytes was significantly lower than that in normal range. We identified a homozygous mutation in IL12RB1 gene for two kindred who had a homozygous mutation affecting an essential splice site. For the third patient, a novel frameshift deletion in IL12RB1 gene was found. The genetic study results confirmed the impaired function of stimulated lymphocytes to release IFN-γ following stimulation with BCG+IL-12 while the response to rhIFN-γ for IL-12p70 production was relatively intact. Our findings show that cellular and molecular assessments are needed for precise identification of immunodeficiency disorders especially those without clear-cut diagnostic criteria.
机译：孟德尔对分枝杆菌病（MSMD）的易感性是一种罕见的遗传综合征，其特征是出生时接种BCG疫苗的儿童中分枝杆菌的传播性感染。关于伊朗的疫苗接种计划，可以考虑将其视为公共卫生问题。 MSMD的发病机制取决于IFN-γ（γ）的产生不足或对它的反应不足。在这里，我们想介绍一下2013年至2015年间由免疫学，哮喘和过敏研究所（IAARI）引荐给免疫学，哮喘和变态反应研究所（IAARI）的两个案例，其中包括两个兄弟姐妹和一个来自两个无关家庭的两名女孩和一名女孩。细胞因子评估和遗传分析均证实了其MSMD。关于患者的临床特征，在淋巴细胞转化试验（LTT）中要求针对有丝分裂原和BCG抗原的细胞增殖。进行ELISA以分别测量由BCG +重组人IFN-γ和BCG +重组人IL-12活化的全血样品中的IL-12p70和IFN-γ。与促细胞分裂剂相反，患者白细胞的抗原依赖性增殖活性明显低于正常范围。我们确定了两个亲属的IL12RB1基因的纯合突变，他们具有影响必需剪接位点的纯合突变。对于第三位患者，发现了IL12RB1基因的新型移码缺失。遗传研究结果证实，用BCG + IL-12刺激后，受刺激的淋巴细胞释放IFN-γ的功能受损，而针对IL-12p70产生的对rhIFN-γ的反应则相对完整。我们的研究结果表明，需要进行细胞和分子评估以准确鉴定免疫缺陷疾病，尤其是那些没有明确诊断标准的疾病。

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