Exons analysis of interferon-gamma receptor 1 gene in patients with Mendelian susceptibility to mycobacterial diseases (MSMD) in the central region of Iran

(2019) Exons analysis of interferon-gamma receptor 1 gene in patients with Mendelian susceptibility to mycobacterial diseases (MSMD) in the central region of Iran. Journal of Isfahan Medical School. pp. 1349-1354. ISSN 10277595 (ISSN)

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Abstract

Background: Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency disease which is caused by interferon-gamma (IFN-γ) signaling impairment. Patients with MSMD are susceptible to infections with weakly virulent non-tuberculous mycobacteria (NTM) and the Bacillus Calmette-Guérin (BCG) vaccine strain. Regarding that a great number of identified mutations in MSMD are located on IFN-γ receptor 1 (IFNGR1) gene, this study aimed to evaluate IFNGR1 mutation in patients with MSMD in the central region of Iran. Methods: We examined 31 patients suspected to MSMD based on defined criteria. IFNGR1 gene mutation analysis was performed on the DNA samples using polymerase chain reaction (PCR) and gene sequencing methods. Findings: The sequencing of exons 1-6 of IFNGR1 gene in patients with MSMD was evaluated, and among 31 patients, six polymorphisms were found, that two of them were not reported before. Conclusion: In this research, two polymorphisms were found in exon 1, rs17181457 and rs2234711, both of them increase the susceptibility to mycobacterial infection. The approach to treatment of infection in patients with MSMD is based on the kind of mutation. Therefore, assessment of gene mutation in these patients is helpful to choose the appropriate treatment. © 2019 Isfahan University of Medical Sciences(IUMS). All rights reserved.

Item Type: Article
Keywords: BCG vaccine Disease susceptibility Interferon gamma receptor 1 Mycobacterium infections Tuberculosis
Subjects: QW Microbiology and Immunology > QW 1-300 Microbiology
QW Microbiology and Immunology > QW 501-949 Immunology
Divisions: Acquired Immunodeficiency Research Center
Faculty of Medicine > Department of Basic Science > Immunology Department
Infectious Diseases and Tropical Medicine Research Center
Nosocomial Infection Research Center
Other
Page Range: pp. 1349-1354
Journal or Publication Title: Journal of Isfahan Medical School
Journal Index: Scopus
Volume: 36
Number: 503
Identification Number: https://doi.org/10.22122/jims.v36i503.10497
ISSN: 10277595 (ISSN)
Depositing User: Zahra Otroj
URI: http://eprints.mui.ac.ir/id/eprint/11984

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