肆客足球

? PIDDGEN?

Primary immunodefici???encies (PIDs)? are a group of more than 130 disorders affecting the development and function of the immune system. Generally, PIDs are monogenic disorders with a Mendelian pattern of inheritance. Of particular interest to our research are PIDs that are known to cause increased susceptibility to mycobacteria. These include Mendelian Susceptibility to Mycobacterial Disease (MSMD), Chronic Granulomatous Disease (CGD) and Severe Combined Immunodeficiency (SCID).

We believe that genes that are mutated to cause these PIDs would be plausible candidate genes for increased susceptibility to tuberculosis in the general population. Several MSMD, CGD and SCID-causing genes have been identified and our research team will assess these genes for increased susceptibility to tuberculosis in our large panel of TB patients.

While many mutations for MSMD, CGD and SCID have previously been identified, a large number of affected individuals exists for whom no gene mutation has been found. In collaboration with the National Health Laboratory Service’s Immunological Unit as well as the Department of Clinical Genetics and Genetic Counselling, we are using next generation exome sequencing to identify novel MSMD, CGD and SCID-causing mutations.

The novel mutations will inform treatment for these patients, and will also be assessed for their role in increased TB susceptibility in the general population.?