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 for individual patients. Recently, we showed 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 PID patients, and combine these measurements to characterise the molecular events that are responsible for specific forms of PID.
This project will recruit new patients with PID as well as recalling patients with PID previously recruited to NIHR BioResource – Rare Disease to collect additional blood samples.
Our hope is to provide genetic diagnosis to more patients, and by increasing our understanding of the human immune system will help develop new treatments.
This work is funded by a Wellcome Trust Collaborative Award in Science entitled ‘Primary Immunodeficiency: Mechanism and Diagnosis via Integrative Clinical Immunogenomics’ and involves collaborations with the NIHR BioResource and Genomics England.
 Thaventhiran, J.E.D., Lango Allen, H., Burren, O.S. et al. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature 583, 90–95 (2020). doi.org/10.1038/s41586-020-2265-1