Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

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

Similar articles

See all similar articles

Cited by

References

    1. van de Vosse E., Ottenhoff T.H., de Paus R.A., Verhard E.M., de Boer T., van Dissel J.T., Kuijpers T.W. Mycobacterium bovis BCG-itis and cervical lymphadenitis due to Salmonella enteritidis in a patient with complete interleukin-12/-23 receptor beta1 deficiency. Infection. 2010;38:128–130. doi: 10.1007/s15010-009-9222-0. - DOI - PubMed
    1. Bousfiha A., Moundir A., Tangye S.G., Picard C., Jeddane L., Al-Herz W., Rundles C.C., Franco J.L., Holland S.M., Klein C., et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J. Clin. Immunol. 2022;42:1508–1520. doi: 10.1007/s10875-022-01352-z. - DOI - PubMed
    1. Costagliola G., Peroni D.G., Consolini R. Beyond Infections: New Warning Signs for Inborn Errors of Immunity in Children. Front. Pediatr. 2022;10:855445. doi: 10.3389/fped.2022.855445. - DOI - PMC - PubMed
    1. Casanova J.L., Abel L. Genetic dissection of immunity to mycobacteria: The human model. Annu. Rev. Immunol. 2002;20:581–620. doi: 10.1146/annurev.immunol.20.081501.125851. - DOI - PubMed
    1. Levin M., Newport M.J., D’Souza S., Kalabalikis P., Brown I.N., Lenicker H.M., Agius P.V., Davies E.G., Thrasher A., Klein N., et al. Familial disseminated atypical mycobacterial infection in childhood: A human mycobacterial susceptibility gene? Lancet. 1995;345:79–83. doi: 10.1016/S0140-6736(95)90059-4. - DOI - PubMed

MeSH terms

LinkOut - more resources