Exons Analysis of Interferon-Gamma Receptor 1 Gene in Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in the Central Region of Iran
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 Calmett...
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| Format: | Article |
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Isfahan University of Medical Sciences
2019-01-01
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| Series: | مجله دانشکده پزشکی اصفهان |
| Subjects: | |
| Online Access: | http://jims.mui.ac.ir/index.php/jims/article/view/10497 |
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| author | Roya Sherkat Majid Yaran Nioosha Nekooei Elaheh Talebi Hamid Rahimi Bahram Bagherpoor Mahdieh Behnam Soodabeh Rostami Somayeh Najafi Azita Nourimahdavi Mazdak Ganjalikhani-Hakemi Fariba Farid Narges Rahmanian |
| author_facet | Roya Sherkat Majid Yaran Nioosha Nekooei Elaheh Talebi Hamid Rahimi Bahram Bagherpoor Mahdieh Behnam Soodabeh Rostami Somayeh Najafi Azita Nourimahdavi Mazdak Ganjalikhani-Hakemi Fariba Farid Narges Rahmanian |
| author_sort | Roya Sherkat |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T09:09:12Z |
| format | Article |
| id | doaj.art-a9bded99a6dd4a53b246cb7208e6613c |
| institution | Directory Open Access Journal |
| issn | 1027-7595 1735-854X |
| language | fas |
| last_indexed | 2024-03-12T09:09:12Z |
| publishDate | 2019-01-01 |
| publisher | Isfahan University of Medical Sciences |
| record_format | Article |
| series | مجله دانشکده پزشکی اصفهان |
| spelling | doaj.art-a9bded99a6dd4a53b246cb7208e6613c2023-09-02T15:05:00ZfasIsfahan University of Medical Sciencesمجله دانشکده پزشکی اصفهان1027-75951735-854X2019-01-01365031349135410.22122/jims.v36i503.104973252Exons Analysis of Interferon-Gamma Receptor 1 Gene in Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in the Central Region of IranRoya Sherkat0Majid Yaran1Nioosha Nekooei2Elaheh Talebi3Hamid Rahimi4Bahram Bagherpoor5Mahdieh Behnam6Soodabeh Rostami7Somayeh Najafi8Azita Nourimahdavi9Mazdak Ganjalikhani-Hakemi10Fariba Farid11Narges Rahmanian12Professor, Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, IranPhD in Laboratory Sciences, Infectious Diseases and Tropical Medicine Research Center, Isfahan University of Medical Sciences, Isfahan, IranPhD Candidate, Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, IranNosocomial Infection Research Center, Isfahan University of Medical Sciences, Isfahan, IranAssistant Professor, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, IranPhD in Molecular Medicine, Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, IranMedical Genetics Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, IranPhD in Microbiology, Infectious Diseases and Tropical Medicine Research Center, Isfahan University of Medical Sciences, Isfahan, IranAcquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, IranGeneral Practitioner, Molahadi Sabzevari Health Center, Isfahan University of Medical Sciences, Isfahan, IranAssociate Professor, Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, IranGeneral Practitioner, Department of Disease Control, Provincial Health Center, Isfahan University of Medical Sciences, Isfahan, IranGeneral Practitioner, PhD in Molecular Medicine, Acquired Immunodeficiency Research Center, Isfahan University of Medical Sciences, Isfahan, IranBackground: 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.http://jims.mui.ac.ir/index.php/jims/article/view/10497Mycobacterium infectionsDisease susceptibilityInterferon gamma receptor 1TuberculosisBCG vaccine |
| spellingShingle | Roya Sherkat Majid Yaran Nioosha Nekooei Elaheh Talebi Hamid Rahimi Bahram Bagherpoor Mahdieh Behnam Soodabeh Rostami Somayeh Najafi Azita Nourimahdavi Mazdak Ganjalikhani-Hakemi Fariba Farid Narges Rahmanian Exons Analysis of Interferon-Gamma Receptor 1 Gene in Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in the Central Region of Iran مجله دانشکده پزشکی اصفهان Mycobacterium infections Disease susceptibility Interferon gamma receptor 1 Tuberculosis BCG vaccine |
| title | Exons Analysis of Interferon-Gamma Receptor 1 Gene in Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in the Central Region of Iran |
| title_full | Exons Analysis of Interferon-Gamma Receptor 1 Gene in Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in the Central Region of Iran |
| title_fullStr | Exons Analysis of Interferon-Gamma Receptor 1 Gene in Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in the Central Region of Iran |
| title_full_unstemmed | Exons Analysis of Interferon-Gamma Receptor 1 Gene in Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in the Central Region of Iran |
| title_short | Exons Analysis of Interferon-Gamma Receptor 1 Gene in Patients with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) in the Central Region of Iran |
| title_sort | exons analysis of interferon gamma receptor 1 gene in patients with mendelian susceptibility to mycobacterial diseases msmd in the central region of iran |
| topic | Mycobacterium infections Disease susceptibility Interferon gamma receptor 1 Tuberculosis BCG vaccine |
| url | http://jims.mui.ac.ir/index.php/jims/article/view/10497 |
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