Human genetics of tuberculosis: a long and winding road

摘要: Only a small fraction of individuals exposed to Mycobacterium tuberculosis develop clinical (TB). Over the past century, epidemiological studies have shown that human genetic factors contribute significantly this interindividual variability, and molecular progress has been made over decade for at least two three key TB-related phenotypes: (i) major locus controlling resistance infection with M. identified, (ii) proof principle severe TB childhood can result from single-gene inborn errors interferon-γ immunity provided; association pulmonary in adulthood met more limited success. Future these phenotypes could consider subgroups subjects defined on basis individual (e.g. age onset) or environmental pathogen strain) factors. Progress may also be facilitated by further methodological advances genetics. Identification variants various stages forms is critical understanding pathogenesis. These findings should implications control, definition improved prevention strategies, optimization vaccines trials development novel treatments aiming restore deficient immune responses.