Genetic and functional mechanisms of susceptibility to infection
Research type
Research Study
Full title
Genetic and functional mechanisms of susceptibility to infection
IRAS ID
172537
Contact name
Sergey Nejentsev
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust
Duration of Study in the UK
6 years, 7 months, 30 days
Research summary
Susceptibility to infection can be genetically determined. For example, Mendelian mutations that disrupt normal functioning of the immune system are known to cause primary immunedeficiencies. Immunedeficiencies manifest as severe and/or recurrent infections that can be caused either by opportunistic pathogens (bacteria, viruses or fungi) or by highly virulent pathogens, which also cause common infectious diseases in the apparently immunocompetent subjects, such as Mycobacterium tuberculosis. Often immunodeficient patients suffer infections caused by several pathogens. Some immunodeficient patients may be also predisposed to autoimmune and inflammatory diseases or malignancies. However, not all patients who suffer severe or recurrent infections are recognised as having a defined immunodeficiency, given the complexity of diagnostic procedures that require extensive immunological and/or genetic analyses. Such patients would receive standard antibiotic treatment with unsatisfactory results. Furthermore, the genetic causes still remain unknown in many patients who suffer severe/recurrent infections. Modern techniques, in particular those using high-throughput methods of sequencing, can uncover candidate genetic variants and help to identify the affected genes and pathways in such patients.
The objectives of this project are: (i) to discover new genetic variants that predispose to infections, (ii) to investigate functions of the affected proteins and immune pathways and (iii) to uncover new mechanisms that protect from infection.
These findings will improve the understanding of the immune system leading to new diagnostic assays and novel therapeutic approaches.REC name
West of Scotland REC 5
REC reference
15/WS/0019
Date of REC Opinion
28 Jan 2015
REC opinion
Further Information Favourable Opinion