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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 2/2024

31-08-2023 | Scrofuloderma | Scientific Letter

Mendelian Susceptibility to Mycobacterial Disease - A Diagnostic and Therapeutic Challenge

Authors: Rahi Sanap, Jane David, Niranjana Chattopadhyay, Rajwanti K. Vaswani

Published in: Indian Journal of Pediatrics | Issue 2/2024

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Excerpt

To the Editor: Mendelian susceptibility to mycobacterial diseases (MSMD) is a group of inborn errors of immunity characterised by defect in the interferon-gamma (IFN-γ)-mediated immunity [1]. It predisposes patients to infections caused by environmental mycobacteria and other intracellular pathogens [2]. …
Literature
1.
Gebeyehu NA, Deribessa SJ, Alexandra F, et al. Mendelian susceptibility to mycobacterial diseases (MSMD) in a 13-year-old ethiopian girl with autosomal dominant interferon gamma receptor 1(IFN-γ R1) defect: a clinical diagnostic and treatment challenge. Case Rep Infect Dis. 2022;2022:6534009.PubMedPubMedCentral
2.
Indumathi CK, Bustamante J. Clinical and immunological profile of children with mendelian susceptibility to mycobacterial diseases (MSMD) from an indian tertiary care hospital. Indian J Tuberc. 2021;68:292–7.CrossRefPubMed
3.
Taur PD, Gowri V, Pandrowala AA, et al. Clinical and molecular findings in mendelian susceptibility to mycobacterial diseases: experience from India. Front Immunol. 2021;12:631298.CrossRefPubMedPubMedCentral
4.
Merchant RH, Ahmed J, Ahmad N. XDR TB in a case of IL12Rβ1 deficiency: a case report of mendelian susceptibility to mycobacterial disease from India. Indian J Pediatr. 2013;80:781–2.CrossRefPubMed
Metadata
Title
Mendelian Susceptibility to Mycobacterial Disease - A Diagnostic and Therapeutic Challenge
Authors
Rahi Sanap
Jane David
Niranjana Chattopadhyay
Rajwanti K. Vaswani
Publication date
31-08-2023
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 2/2024
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-023-04836-x

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