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Review
. 2024 Feb 25;13(3):203.
doi: 10.3390/pathogens13030203.

Diagnosis and Management of Infections in Patients with Mendelian Susceptibility to Mycobacterial Disease

Aparna Dalvi  1 , Umair Ahmed Bargir  1 , Gita Natraj  2 , Ira Shah  3 , Manisha Madkaikar  1
Affiliations
Review

Diagnosis and Management of Infections in Patients with Mendelian Susceptibility to Mycobacterial Disease

Aparna Dalvi et al. Pathogens. .

Abstract

The diagnosis and treatment of patients with mendelian susceptibility to mycobacterial disease (MSMD) pose consistent challenges due to the diverse infection spectrum observed in this population. Common clinical manifestations include Bacillus Calmette-Guérin vaccine (BCG) complications in countries where routine BCG vaccination is practiced, while in non-BCG-vaccinating countries, Non-Tuberculous Mycobacteria (NTM) is prevalent. In tuberculosis-endemic regions, Mycobacterium tuberculosis (MTB) has a high prevalence, along with other intracellular organisms. Isolating these organisms presents a significant challenge, and treatment is often initiated without confirming the specific species. This review primarily focuses on the methods and challenges associated with diagnosing and treating MSMD patients.

Keywords: Bacillus Calmette-Guérin vaccine; mendelian susceptibility to mycobacterial disease; mycobacterium tuberculosis complex; non-tuberculous mycobacteria.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Schematic representation of genes involved in IFNγ response and production.
Figure 2
Figure 2
Clinical features of MSMD.
Figure 3
Figure 3
Overview of functional assays in patients with MSMD.
See this image and copyright information in PMC

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