Research

Recent advances in immunology research have increased the understanding of the immune defects in CVID and many other immune disorders.

Many of these scientific advances have identified a change in an important gene that regulates normal immune system activities and functions. When such changes in genes occur, the immune system will not function normally and the person could have a defect in immune system function.

Many immune deficiencies have been studied and the causative genetic change or mutation has been discovered. This discovery helps physicians and researchers manage not only the immune disorder but also provide an understanding of the other health effects that the genetic change may cause.

In addition, family members of the person with the immune disorder could be tested to see if they share the genetic change or mutation as well.

However, unlike other immune disorders where the genetic cause is well known, for people diagnosed with CVID, the genetic changes that caused CVID are not known in over 85% of people diagnosed.

The genetic changes that cause an immune deficiency such as CVID, are either inherited from one or both parents or occur spontaneously.

Humans have a very complex genetic make-up and changes in genes are often tolerated without much difference or cause any significant change in health. On rare occasions such genetic changes are not tolerated and the health effects are apparent. In the case of immune system genes, a significant genetic change could have significant effects on the function of the immune system and therefore cause an immune disorder or immune deficiency.

Understanding the genetic change or mutation that caused CVID can provide better treatment options, and understand the other health effects persons with CVID experience. In addition family members could be tested as well if the genetic changes were known. At Duke University, we are conducting a number of research studies to learn more about CVID. We have been investigating the genetics of the immune system as well, looking for significant genetic changes in our patients with CVID.

However, unlike other immune disorders where the genetic cause is well known, for people diagnosed with CVID, the genetic changes that caused CVID are not known in over 85% of people diagnosed.

To find out if you are eligible to participate in one of our studies please call or register on-line to speak with our study team to learn more.