Primary Immunodeficieny
Study code
DAA009
Lead researcher
Dr Paul Lyons
Study type
Data only
Institution or company
University of Cambridge
Researcher type
Academic
Speciality area
Genomics and Rare Diseases
Summary
Primary immunodeficiency (PID) is characterised by recurrent and often life-threatening infections, autoimmunity and cancer, and it presents major diagnostic and therapeutic challenges. Although the most severe forms present in early childhood, the majority of patients present in adulthood, typically with no apparent family history and a variable clinical phenotype of widespread immune dysregulation. Consequently, in sporadic PID genetic diagnosis is difficult and the role of genetics is not well defined. We have addressed this by performing whole genome sequencing of a large cohort of PID patients. This analysis has identified new genes contributing to PID and deepened our understanding of the key pathways determining variation in human immune responsiveness.