Common variable immunodeficiency disorder (CVID) is a disease that affects the immune system, causing low antibody levels and as such, an increased susceptibility to infections such as pneumonia. 25% CVID patients have autoimmune disorders and CVID patients also have a 10-fold increase risk of cancer.
Consultant Immunologist Dr Smita Patel (Experimental Medicine Division, NDM) has identified a range of genetic defects in the DNA damage and repair pathways in CVID patients that may be implicated in the increased cancer risk1. She and her post-doc Chantal Hargreaves now plan to investigate which DNA repair pathways are affected in order to understand more about the risk of developing cancer, particularly lymphoid malignancies.
Dr Patel is collaborating on this CRUK Early Detection Primer Award project with Graham Collins who is a Consultant Haematologist and lymphoma lead for the Thames Valley lymphoma multidisciplinary team.
- van Schouwenburg PA, Davenport EE, … Knight JC, Patel SY (2015). Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders. Clin Immunol. 160(2):301-14. doi: 10.1016/j.clim.2015.05.020.