呈孟德尔遗传的分枝杆菌病

Mendelian susceptibility to mycobacterial disease

呈孟德尔遗传的分枝杆菌病是少见的遗传异常，特征为对弱毒力的分枝杆菌敏感，如卡介苗和环境分枝杆菌。干扰素（IFN）－γ/白细胞介素（IL）－12通路是控制分枝杆菌感染的关键，数个相关基因已被鉴定。IFN－γ分泌受损见于IL－12p40和IL－12受体β1（IL－12Rβ1）缺陷患者，对IFN－γ反应受损见于IFN－γ受体1、IFN－γ受体2和信号转导和转录活化子1（STAT1）缺陷患者。其他已获得鉴定的相关生殖突变基因包括细胞色素b（－245）β亚单位（CYBB）、干扰素调节因子8（IRF8）、泛素样修饰子（ISG15）、RORC和TYK2。一半的患者除易感沙门菌外，并不表现有常见的相关感染。现就相关疾病的发病机制、分子特征、临床特点、实验室发现、诊断、治疗及预后等方面的内容进行阐述，为儿科医师在此领域的诊疗工作提供相关信息。

Mendelian susceptibility to mycobacterial diseases （MSMD）is a rare congenital disorder characte-rized by susceptibility to poorly virulent mycobacteria, such as Bacille Calmette-Guerin vaccine or non-tuberculous environmental mycobacteria.The interferon-γ（IFN-γ）/interleukin-12（IL-12） pathway is central to controlling mycobacterial infections, in which several genes had been identified.IFN-γ secretion is impaired in patients with IL-12p40 and IL-12 receptor β1 deficiency, where the response to IFN-γ is impaired in patients with IFN-γ receptor 1, IFN-γ receptor 2, and signal transducer and activator of transcription 1 deficiencies.Furthermore, germline mutations in the cytochrome b （-245） beta subunit, interferon regulatory factor 8, ubiquitin-like modifier, RORC and TYK2 have been identified as the genes which are responsible for MSMD.These patients do not generally have associa-ted infections, apart from salmonellosis.Now, the pathogenesis, molecular, clinical, laboratory features, treatment and prognosis were described, in order to support the clues for pediatrician′s clinical practice.