Active BRIDGE Studies - PID

Primary Immune Disorders (acronym PID, project identifier B22) - This study will focus on genetic causes of severe immune disorders, also known as Primary ImmunoDeficiencies (PID), with the largest category being CVID, but the it may also include the "extreme phenotype" of premature and severe autoimmunity.

Prof Ken Smith

Prof Ken Smith

The BRIDGE Primary ImmunoDeficiency (PID) project is focussed on patients with a disease of the immune system. The project is coordinated by Professor Ken Smith (Cambridge University Hospitals, UK) together with Professor Adrian Thrasher (Great Ormond Street Hospital, London) and Professor Taco Kuijpers (Amsterdam Medical Centre, the Netherlands). The main role of the cells of the immune system is to guard against infection and to keep pathogens at bay. In healthy individuals defence against pathogens is maintained by at least 30 different types of white blood cells that must be armed and function properly. Their development and interactions with each other are complex and well tuned and cellular and soluble factors are important messengers in coordinating these different cell types. Rare differences in the DNA code can severely compromise the immune system.s ability to fight infection or maintain tolerance and prevent premature autoimmune diseases. These immune diseases are referred to as primary immunodeficiency (PID).

These PIDs are generally of an inherited nature and are represented by broad categories of which common variable immunodeficiency (CVID) is the largest. Together, these disorders may also include the extreme phenotype of premature and severe autoimmunity. Many of these conditions are chronic with significant impact on patient well-being and survival and those with CVID require life-long support with expensive blood-derived immunoglobulin concentrates whilst certain PID cases must be transplanted with donor blood stem cells at early age or cured by gene therapy.

About 200 genes are already known to be causative of PID, nonetheless still more than 50% of the clinically severe PID cases cannot yet be explained. The aim of the BRIDGE-PID project is to discover novel genes which are causative for PID. Knowledge of the genetic basis of a disorder will eventually aid decision-making about best treatment options, and the information may be used for informed family planning.