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

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

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

References

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Journal of Isfahan Medical School
Volume 36, Issue 503 - Serial Number 503
September and October 2019
Pages 1349-1354

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History

  • Receive Date: 11 September 2018
  • Revise Date: 09 November 2024
  • Accept Date: 06 April 2022

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