CORDIS Project
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This project investigates the role of mutations in the MCTS1 gene in patients with Mendelian susceptibility to mycobacterial disease. By exploring the connection between MCTS1 deficiency and immune response, it aims to enhance understanding of how translation regulation affects immunity against mycobacterial infections…
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by severe infections with weakly virulent mycobacteria in otherwise healthy patients.
All known 31 genetic etiologies are inborn errors of interferon gamma (IFN-g) immunity and collectively account for about half of the cases.
We discovered private, hemizygous, predicted loss- of-function (pLOF) mutations in the X-linked ribosome recycling and reinitiation factor MCTS1 gene in five unrelated MSMD male patients.
The connect…
IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS MALADES FONDATION
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