Human Genetic of Infectious Diseases
Research area of the Unit Our laboratory aims to identify the human genes involved in the response to an infectious agent. The two teams (L. Abel and J.L. Casanova) work together to address the question of genetic susceptibility to rare and common infections, from the perspective of both Mendelian and complex predisposition. In the last years, the laboratory has focused on the human genetics of specific bacterial, viral, and fungal infections. Our principal results include the identification of 1) mutations causing the syndrome of Mendelian susceptibility to mycobacterial diseases; 2) the first cases of Mendelian tuberculosis; 3) the first major loci conferring predisposition to pulmonary tuberculosis and controlling infection byM. tuberculosis; 4) major leprosy susceptibility variants; 5) a new group of primary immunodeficiencies causing invasive pneumococcal infections; 6) mutations in the TLR3 pathway causing herpes simplex encephalitis; 7) mutations impairing IL-17 T cell immunity responsible of Chronic mucocutaneous candidiasis.