NIH R01 · 2024
Genome-Wide Dissection of Mendelian Susceptibility to Mycobacterial Disease
Project Summary Mendelian susceptibility to mycobacterial disease (MSMD) is a genetic and selective predisposition to clinical disease caused by weakly virulent mycobacteria, such as Bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM). Patients with MSMD are occasionally vulnerable to other intra-macrophagic pathogens (e.g. salmonella). The pathogenesis of MSMD remained unclear until 1996, when its first genetic etiology was deciphered in children with interferon-γ receptor 1 (IFN-γR1) deficiency. Genetic studies over the last 25 years have identified 16 MSMD-causing genes, including 14 autosomal (IFNG, IFNGR1, IFNGR2, STAT1, IL12B, IL12RB1, IL12RB2, IL23R, IRF8,…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.