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Review
. 2025 Jun 12;17(6):e85872.
doi: 10.7759/cureus.85872. eCollection 2025 Jun.

Overview of Mendelian Susceptibility to Mycobacterial Diseases (MSMD)

Kausalya Raghuraman  1 , Rajeswarie S  1 , Purnima Rajkhowa  1 , Jaya S Kaushik  2
Affiliations
Review

Overview of Mendelian Susceptibility to Mycobacterial Diseases (MSMD)

Kausalya Raghuraman et al. Cureus. .

Abstract

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 Mycobacterium (NTM). Host defense mechanisms, such as the interferon (IFN) gamma and IL-12 pathways, which activate macrophages, play a crucial role in combating the Mycobacterium species. Treatment with interferon gamma and hematopoietic stem cell transplantation holds promise.

Keywords: bcg vaccine; mendelian; mendelian susceptibility to mycobacterial diseases; microbial genetics; mycobacterial disease; tuberculosis.

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Conflict of interest statement

Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Interferon (IFN) pathway against Mycobacterium infection.
See this image and copyright information in PMC

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