Primary immunodeficiency: mechanisms and diagnosis via integrative clinical immunogenomics

Summary

Primary immunodeficiencies (PID) are a group of rare disorders that affect at least 1 in 350 people in the UK. PID encompass a spectrum of genetic diseases that can underlie susceptibility to life threatening infections, autoimmune diseases and some cancers. Variability in PID symptoms and severity makes it challenging to achieve the specific diagnoses required for the care of individual patients. Recently, it was shown that combining clinical and genetic knowledge of 886 PID patients reveals novel genetic causes and aids diagnosis.

The INTREPID project will extend this approach by increasing the depth of genetic, clinical and molecular measurements collected across an expanded cohort of 2,000 PID patients and combine these measurements to characterise the molecular events that are responsible for specific forms of PID.

This project will utilise genetic date on patients with PID already recruited into the BioResource. No patient identifiable information will be provided to the researchers as part of this study.