Overview of Mendelian Susceptibility to Mycobacterial Diseases (MSMD)

Kausalya Raghuraman; Rajeswarie S; Purnima Rajkhowa; Jaya S Kaushik

doi:10.7759/cureus.85872

Overview of Mendelian Susceptibility to Mycobacterial Diseases (MSMD)

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

Authors

Kausalya Raghuraman¹, Rajeswarie S¹, Purnima Rajkhowa¹, Jaya S Kaushik²

Affiliations

¹ Microbiology, All India Institute of Medical Sciences, Guwahati, Guwahati, IND.
² Pediatrics, All India Institute of Medical Sciences, Guwahati, Guwahati, IND.

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.

Publication types

Review