Mendelian susceptibility to mycobacterial disease: an overview
نویسندگان
چکیده
Abstract Background Mycobacteria include ubiquitous species of varying virulence. However, environmental and individual-specific factors, particularly host genetics, play a crucial role in the outcome exposure to mycobacteria. The first molecular evidence monogenic predisposition mycobacteria came from study Mendelian susceptibility mycobacterial disease (MSMD), rare inborn error IFN- γ immunity conferring selective infections even with low virulent mycobacteria, patients, mostly children, without recognizable immune defects routine tests. This article provides global updated description most important molecular, cellular, clinical features all known MSMD. Results Over last 20 years, 19 genes were found be mutated MSMD patients ( IFNGR1, IFNGR2, IFNG, IL12RB1, IL12RB2, IL23R, IL12B, ISG15, USP18, ZNFX1, TBX21, STAT1, TYK2, IRF8, CYBB, JAK1, RORC, NEMO , SPPL2A ), allelic heterogeneity at these loci has led definition 35 different genetic defects. Despite heterogeneity, almost etiologies alter interferon gamma (IFN- )-mediated immunity, by impairing or abolishing production response this cytokine both. It was proven that human level is quantitative trait defines infection. Conclusion contributes understanding mechanism humans development new diagnostic therapeutic approaches improve care prognosis. These discoveries also bridge gap between simple inheritance complex genetics.
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ژورنال
عنوان ژورنال: Egyptian Journal of Medical Human Genetics
سال: 2023
ISSN: ['2090-2441', '1110-8630']
DOI: https://doi.org/10.1186/s43042-022-00358-x