来自印度一家三级护理医院的孟德尔易感性分枝杆菌病（MSMD）患儿的临床和免疫学特征。
Clinical and immunological profile of children with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) from an Indian tertiary care hospital.
机构信息
Department of Paediatrics, St John's Medical College Hospital, Bengaluru, Karnataka, India.
University of Paris, Imagine Institute, Laboratory of Human Genetics of Infectious Diseases, Institut National de La Santé et de La Recherche Médicale U1163 and Study Center of Immunodeficiencies, Necker Hospital for Sick Children, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY, USA.
出版信息
Indian J Tuberc. 2021 Apr;68(2):292-297. doi: 10.1016/j.ijtb.2020.07.027. Epub 2020 Jul 30.
Inherited disorders of interferon gamma (IFN) γ, also known as Mendelian Susceptibility to Mycobacterial Diseases (MSMD), have been classified as Primary Immuno Deficiency 6, ie, defect in intrinsic and innate immunity. As IFN-γ plays an important role in conferring immunity to mycobacterial infections, its disorders have been increasingly reported in association with disseminated BCG/Non Tubercular Mycobacterial infections. So far germline mutations in 16 genes have been reported, most common being IL12RB1 followed by IFNGR1 and IFNGR2. There is limited published data on MSMD from India and here we report 4 unrelated children with proven mutations in IL12RB1 in 2 children and IFNGR1 and IFNGR2 in one each with disseminated opportunistic mycobacterial infections from a tertiary care centre in India.
遗传性干扰素 γ（IFN）γ疾病，也称为孟德尔易感性分枝杆菌病（MSMD），已被归类为原发性免疫缺陷 6 型，即固有和先天免疫缺陷。由于 IFN-γ在赋予分枝杆菌感染免疫方面发挥着重要作用，因此其疾病越来越多地与卡介苗/非结核分枝杆菌的播散性感染相关报道。迄今为止，已经报道了 16 种基因的种系突变，最常见的是 IL12RB1，其次是 IFNGR1 和 IFNGR2。关于印度 MSMD 的已发表数据有限，在此我们报告了印度一家三级护理中心的 4 名无关儿童，他们患有播散性机会性分枝杆菌感染，其中 2 名儿童在 IL12RB1 中证实存在突变，1 名儿童在 IFNGR1 和 IFNGR2 中各存在 1 种突变。
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