Functional investigation of TRAF3 Arg118Trp on immune cell function

Summary

Small differences in our genes can affect how a person’s immune system functions. Some very rare changes in our immune systems can cause problems in how it works leading to a person’s immune system not working very well.

Changes in our genes that lots of people have can cause very small, if any, differences to a person’s immune system and are part of what make each of us different from one another. We are exploring how a change that lots of people have in a gene called TRAF3 may or may not make a difference to a person’s immune system. TRAF3 a part of our immune system that helps us fight off bugs. It is an important part of our immune system, helping to keep us healthy.

We plan to take a small amount of blood, about 10 teaspoons worth, from volunteers who have been found to have a common change in TRAF3 to see if there are any differences in their immune system, and how they fight bugs. Around 1 in 200 people in the UK have this change and we want to know if might make people more likely to become sick with some bugs. Most people with this change in TRAF3 are completely healthy and do not get sicker than any other person might. But, by looking in more detail at the immune system we plan to work out if this common change in TRAF3 might make any difference to a person’s immune system if they got an infection, and whether there might be things that could be done to help treat them should this happen.

Participation: For this study we recruited 24 healthy volunteers from the Cambridge 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.