Raghuraman Kausalya, S Rajeswarie, Rajkhowa Purnima, Kaushik Jaya S
Microbiology, All India Institute of Medical Sciences, Guwahati, Guwahati, IND.
Pediatrics, All India Institute of Medical Sciences, Guwahati, Guwahati, IND.
Cureus. 2025 Jun 12;17(6):e85872. doi: 10.7759/cureus.85872. eCollection 2025 Jun.
Mendelian susceptibility to mycobacterial diseases (MSMD) refers to a group of genetic conditions predisposing an individual to environmental mycobacteria and other intracellular pathogens, leading to disseminated infection. Nine MSMD genes have been identified, which include seven autosomal (IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, ISG15, and IRF8) and two X-linked (NEMO and CYBB) genes. MSMD patients present with disseminated BCGosis or with symptoms of non-tuberculous (NTM). Host defense mechanisms, such as the interferon (IFN) gamma and IL-12 pathways, which activate macrophages, play a crucial role in combating the species. Treatment with interferon gamma and hematopoietic stem cell transplantation holds promise.
孟德尔遗传性分枝杆菌病易感性（MSMD）指的是一组使个体易患环境分枝杆菌及其他细胞内病原体感染、导致播散性感染的遗传病症。已鉴定出9个MSMD基因，其中包括7个常染色体基因（IFNGR1、IFNGR2、STAT1、IL12B、IL12RB1、ISG15和IRF8）和2个X连锁基因（NEMO和CYBB）。MSMD患者表现为播散性卡介苗病或非结核分枝杆菌（NTM）症状。激活巨噬细胞的宿主防御机制，如干扰素（IFN）γ和IL-12途径，在对抗该菌种方面发挥着关键作用。干扰素γ治疗和造血干细胞移植具有前景。
