Abstract
PurposeInborn errors of IFN--mediated immunity underlie Mendelian Susceptibility to Mycobacterial Disease (MSMD), which is characterized by an increased susceptibility to severe and recurrent infections caused by weakly virulent mycobacteria, such as Bacillus Calmette-Guerin (BCG) vaccines and environmental, nontuberculous mycobacteria (NTM).Methods: In this study, we investigated four patients from four unrelated consanguineous families from Isfahan, Iran, with disseminated BCG disease. We evaluated the patients' whole blood cell response to IL-12 and IFN-, IL-12R1 expression on T cell blasts, and sequenced candidate genes.Results: We report four patients from Isfahan, Iran, ranging from 3months to 26years old, with impaired IL-12 signaling. All patients suffered from BCG disease. One of them presented mycobacterial osteomyelitis. By Sanger sequencing, we identified three different types of homozygous mutations in IL12RB1. Expression of IL-12R1 was completely abolished in the four patients with IL12RB1 mutations.Conclusion: sIL-12R1 deficiency was found in the four MSMD Iranian families tested. It is the first report of an Iranian case with S321* mutant IL-12R1 protein. Mycobacterial osteomyelitis is another type of location of BCG infection in an IL-12R1-deficient patient, notified for the first time in this study.
| Item Type: | Journal article |
|---|---|
| Faculties: | Medicine |
| Subjects: | 600 Technology > 610 Medicine and health |
| ISSN: | 0271-9142 |
| Language: | English |
| Item ID: | 64360 |
| Date Deposited: | 19. Jul 2019, 12:15 |
| Last Modified: | 04. Nov 2020, 13:43 |
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