What Causes CVID? Doctors May Have Discovered the Answer

Common variable immunodeficiency, or CVID, is anything but common; it affects about 1 in 20,000 people.

It is, however, characterized by a deficient immune system and can present a wide variety of problems. As a result of their deficiency, people with CVID may experience infections in their lungs, sinuses, ears, GI tract…and then they experience those infections again and again.

According to Dr. Harry Hill, an immunologist, “two or three serious pneumonias a year is not at all unusual” for a person with CVID. And if that person ends up in the hospital for any other type of infection, “they probably need IV antibiotics, and they probably need to be treated with another dose of intravenous immunoglobulin” rather than send home and told “to take a lot of aspirin and drink a lot of fluids.”

Currently, IV immunoglobulin seems to be the only reliable treatment for CVID…which is not good news for insurance companies, or the doctors’ offices that have to put up with insurance companies.

According to Hill, any time his office administers the treatment they “have to prove how low the immunoglobulin levels are,” that the patient needs antibodies because they’ve experienced recurring infections…and even if the patients remain the same, the burden of proof recurs year after year after year.

Dr. Hill can’t fix the health insurance system, but he has certainly contributed to the search for more CVID treatments.

By teaming with Dr. Attila Kumanovics and Dr. Karl Voelkerding, Hill began a search for a genetic mutation that could be responsible for CVID. In total, the team looked at gene sequencing for 29 people from six different families. The results showed mutations to IKZF1, a gene responsible for the development of blood cells (including white blood cells and plasma cells, which are crucial parts of the immune system).

By discovering a common culprit when it comes to CVID, Hill and his team helped legitimize the condition for other doctors and insurance companies who might have been too quick to write off the recurring infections of some patients. But beyond that, Dr. Kumanovics feels that

“In order to really understand the disease and how to treat it, you have to know exactly what the problem is. This [discovery] is very important because it’s very useful.”

Patient Worthy is so grateful for those our rare doctors, constantly trying to better the system. Do you have a story of a rare doctor? Let us know in the comments below!

James Ernest Cassady

James Ernest Cassady

Though "Ernest" is a family name that's been passed down for generations, James truly earned his middle moniker when, at the age of five, he told his mother that "laughing is stupid unless EVERYBODY is happy." Since then, the serious little bastard has been on a mission to highlight the world's shortcomings (and hopefully correct them). In addition to his volunteer work at hospitals and animal shelters, James also enjoys documentaries and the work of William Faulkner. He is originally from Oklahoma.

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