Functional analysis of primary immunodeficiency-associated gene variants

Study code

Lead researcher
Professor Ken Smith

Study type
Participant re-contact

Institution or company
University of Cambridge

Researcher type

Speciality area
Genomics and Rare Diseases

Recruitment Site


Primary immunodeficiencies (PID) are a large group of genetic disorders that affect more than 1% of the UK population and can underlie susceptibility to debilitating infection, auto-immune disease and some cancers. They can have a devastating impact on the lives of patients and their families. However, PID are often unrecognised because of variations in the severity and types of symptoms that can delay diagnosis and the implementation of appropriate care.

We recently completed a pilot study that combined the genetic and clinical data of PID patients to identify new genetic causes in order to improve diagnosis for affected individuals. We are extending this work to integrate genetic, clinical, and laboratory measures of immune function from PID patients, and use this information to unravel the biological mechanisms that control our immune cells and can result in failure of our immune systems to operate normally.

Ultimately this will inform diagnosis and enable the appropriate use of therapeutics to transform the lives of this significant patient population.

Our findings may also have impact for other areas of medicine such as autoimmunity and cancer, where immune cells play a part in the disease process.

Participation: For this study we recruited 103 volunteers from the BioResource to give a 50 ml blood sample. 

Organisation: This study is organised by Professor Ken Smith at the Department of Medicine in the Cambridge Institute for Medical Research situated on the Addenbrooke’s hospital site in Cambridge.