Article
A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients.
Immunogenetics - 1 Jan 2014
Ben-Mustapha Imen, Ben-Ali Meriem, Mekki Najla, Patin Etienne, Harmant Christine, Bouguila Jihène, Elloumi-Zghal Houda, Harbi Abdelaziz, Béjaoui Mohamed, Boughammoura Lamia, Chemli Jalel, Barbouche Mohamed-Ridha
Abstract excerpt
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare disorder predisposing apparently healthy individuals to infections caused by weakly virulent mycobacteria such as bacille Calmette-Guerin (BCG), environmental mycobacteria, and poorly virulent Salmonella strains. IL-12p40 deficiency is the first reported human disease due to a cytokine gene defect and is one of the deficiencies that cause MSMD....
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