Scientists discover genetic disease that causes recurrent respiratory infections

Cambridge scientists have discovered a rare genetic disease that predisposes patients to severe respiratory infections and lung damage. Moreover, as scientists also identified how the genetic mutation affects the immune system, they are hopeful that new drugs currently undergoing clinical trials to treat leukaemia may also be effective in helping individuals with this debilitating disease. For the study, led by Cambridge University in collaboration with the Babraham Institute and the MRC Laboratory for Molecular Biology, the researchers first examined genetic information from individuals who suffer from immunodeficiency and are predisposed to infections. From this group, the scientists identified a unique