Primary Immunodeficiency: mechanism and diagnosis via integrative clinical immunogenomics

Summary

Primary immunodeficiencies (PID) are a group of rare disorders affecting at least 1 in 350 people in the UK. PID include a range of genetic diseases that can mean people are at higher risk of getting life threatening infections, autoimmune diseases and some cancers. The large number of different PID symptoms and differences in how bad they can be makes it difficult for patients to be diagnosed and get the right treatment and care. Recently, we showed that combining clinical and genetic information from 800 PID patients revealed new genetic causes of their conditions and helped diagnosis. The INTREPID project will extend this method by collecting more detailed genetic, clinical and molecular measurements from a bigger group of 2,000 PID patients, and using that information to find out what changes are responsible for specific forms of PID. This will give a genetic diagnosis to more patients and improve our understanding of the human immune system.