Launched on 1st April 2021, Immunodeficiency UK is a UK charity supporting individuals and families affected by a primary or secondary immunodeficiency. They help ensure those affected have the knowledge needed to manage their condition and make sure their health needs are understood.
What is immunodeficiency?
Immunodeficiency (or immune deficiency) is where the immune system’s ability to fight infections is weakened or entirely absent. Any deficit in the immune system can lead to frequent, prolonged or unusual infections and illness.
There are two types of immunodeficiencies:
- Primary immunodeficiency (PID) are mainly genetic disorders and most people with PID are born with the condition.
- Secondary immunodeficiency (SID) occurs when the immune system is weakened by another treatment or illness. SID is much more common as a health condition than PID.
Is there any research into PID and SID?
It can be challenging to diagnose and treat PID, but understanding the genetic cause of the condition in each individual can help to identify the most effective treatment.
A study, funded by the NIHR Cambridge Biomedical Research Centre (BRC), sequenced the entire genetic code of 974 people with PID. The team were able to identify variations (changes) in genes already known to cause PID in almost one in five of the study participants, providing them with a genetic diagnosis for their condition. The paper was published in the journal Nature (6 May 2020).
Matthew Cook, Professor of Experimental Medicine and Honorary Consultant in Clinical Immunology, Department of Medicine, University of Cambridge states:
“Advances in genetic research, particularly the ability to read a person's entire genetic code, has identified changes in more than 500 genes that are involved in PIDs. Research at Cambridge University is continuing this effort, but also focuses on the crucial task of understanding how these genetic changes cause changes in the function of the immune system. This knowledge opens up possibilities of new treatments that will improve the lives of people affected by PIDs.”
How can D-CYPHR help?
D-CYPHR (DNA, Children + Young People’s Health Resource) is part of the NIHR BioResource and is in partnership with the NHS. There are many key research areas like immune conditions that D-CYPHR is looking into to better understand childhood health.
All families with children aged 0-15 in the UK, with and without health conditions can sign up to D-CYPHR online. It’s as easy as filling in a health and lifestyle questionnaire and donating a sample of saliva. Without volunteers, researchers can’t pioneer new treatments and create better care for those in need.