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

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.

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.

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.

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.