Journal of Isfahan Medical School

Journal of Isfahan Medical School

Exons Analysis of Interferon-Gamma Receptor 1 Gene in Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in the Central Region of Iran

Document Type : Original Article (s)

Authors
Roya Sherkat 1
Majid Yaran 2
Nioosha Nekooei 3
Elaheh Talebi 4
Hamid Rahimi 5
Bahram Bagherpoor 6
Mahdieh Behnam 7
Soodabeh Rostami 8
Somayeh Najafi 9
Azita Nourimahdavi 10
Mazdak Ganjalikhani-Hakemi 11
Fariba Farid 12
Narges Rahmanian 13
1 Professor, Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
2 PhD in Laboratory Sciences, Infectious Diseases and Tropical Medicine Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
3 PhD Candidate, Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
4 Nosocomial Infection Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
5 Assistant Professor, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
6 PhD in Molecular Medicine, Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
7 Medical Genetics Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
8 PhD in Microbiology, Infectious Diseases and Tropical Medicine Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
9 Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
10 General Practitioner, Molahadi Sabzevari Health Center, Isfahan University of Medical Sciences, Isfahan, Iran
11 Associate Professor, Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
12 General Practitioner, Department of Disease Control, Provincial Health Center, Isfahan University of Medical Sciences, Isfahan, Iran
13 General Practitioner, PhD in Molecular Medicine, Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
10.22122/jims.v36i503.10497
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.
Keywords
Mycobacterium infections
Disease susceptibility
Interferon gamma receptor 1
Tuberculosis
BCG vaccine
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Journal of Isfahan Medical School
Volume 36, Issue 503 - Serial Number 503
September and October 2019
Pages 1349-1354

  • Receive Date 11 September 2018
  • Accept Date 06 April 2022