Finding treatment for a rare disease like CVID can feel like a dice roll.
How can you find an effective treatment if doctors don’t know exactly what’s wrong with you?
Dr. Harry Hill has seen his share of patients who have been chronically sick with pneumonia and sinus infections that were difficult to treat. One patient in particular caught his interest–and as it turned out, his patient and five other families from around the world would lead to a brand new classification of common variable immune deficiency (CVID).
Hill, in collaboration with more than two dozen researchers, determined that a mutation in a protein that’s imperative to the development of immune cells is the underlying cause of this subtype of CVID.
The researchers isolated a gene from Hill’s patient, and matched symptoms with genetic profiles from the other five families. Though all were deficient or missing a particular piece of DNA, some developed CVID while other family members did not.
What does all this mean? Only good possibilities, including:
- The chance to create new targeted medicines for CVID that will improve lives
- Earlier diagnosis, before the patient’s body is damaged by chronic infections
- The best bet for finding a cure because some of the patient pool in the study systemically mounted a defense against the abnormal protein
There are a number of conditions that fall under the CVID umbrella, and 1 in 20,000 people are affected by the disorder.
That’s a lot of people these findings could help, and we’re excited about what’s to come!
For more information on CVID, visit the Immune Deficiency Foundation.
