Recent Study Discovered a New Gene Associated with Causing CVID!

Today I received notice of a new article on CVID and the information is pretty exciting! In Utah a mother with two children (all of whom have CVID) enrolled in a genetic study for CVID and the researchers discovered another gene mutation associated with causing CVID. In addition to testing the mother and her two children they also found another person (out of 35 tested) who also had the gene mutation. They don't know whether it was a mutation that all four of these people were born with or whether the gene mutated due to some other cause.

The article, from The Science Codex, titled "Mutation in NFKB2 gene causes hard-to-diagnose immunodeficiency disorder CVID" states: 

"NFKB2 gene impairs a protein from functioning properly, which interferes with the body's ability to make antibodies and fight infection."

The article also stated that there's a new test developed by ARUP Laboratories that involves testing for this gene mutation that will be available in May of 2014. The new test will help doctors diagnose CVID. I hope that this new test will help CVID patients who are borderline in terms of antibody numbers get a more definite diagnosis that will ensure insurance will authorize treatment for them. No more of this "We won't cover because your numbers are borderline and your doctor didn't test your pneumonia titers to see if you built antibodies". Wouldn't that be wonderful? Too many of my friends in my CVID support group have had to wrestle with insurance companies to get treatment because their doctors weren't knowledgeable enough to follow a diagnostic criteria that insurance companies would honor. I'm blessed in that regard, despite the fact that I am not currently getting IVIG treatments.

This is so exciting because it means that there is more research being done to find out the cause of CVID and they are making discoveries that could one day lead to a cure! I expect that somehow I may have interacted with the woman in this study. There are few enough of us in the United States that it's not that unreasonable an assumption. If so, or if you are reading this, thank you for getting involved to help get us some answers! :)

Negative Impacts of Stress on the Immune System

This morning I was reading an article from Science Daily about how a person's current state of mind can affect their genetic makeup, and as I was reading it I came across a few paragraphs on how stress impacts the immune system.

"Previous studies had found that circulating immune cells show a systematic shift in baseline gene-expression profiles during extended periods of stress, threat or uncertainty. Known as conserved transcriptional response to adversity, or CTRA, this shift is characterized by an increased expression of genes involved in inflammation and a decreased expression of genes involved in antiviral responses.This response, Cole noted, likely evolved to help the immune system counter the changing patterns of microbial threat that were ancestrally associated with changing socio-environmental conditions; these threats included bacterial infection from wounds caused by social conflict and an increased risk of viral infection associated with social contact."But in contemporary society and our very different environment, chronic activation by social or symbolic threats can promote inflammation and cause cardiovascular, neurodegenerative and other diseases and can impair resistance to viral infections," said Cole, the senior author of the research."

From article: Be Happy: Your Genes May Thank You for It in Science Daily

Many times I have wondered whether a very stressful period of my life could have a negative impact on my immune system. I don't know as I would go so far as to say that it could cause CVID, but I have been under extreme levels of stress and have seen my body break down under the pressure. Recently I was laid off from my job, my serious relationship ended, and my best friend moved out of state, all within 3 months of each other. I have seen a direct impact on my health with multiple respiratory infections and a bout of shingles. I try to counter the effects of stress by using self-hypnosis recordings and focusing on the positives of my life. Other things like a hot bath with relaxing music, a positive book that encourages me to look at all I have to be grateful for, and pampering myself all seem to help. I believe these things all help to offset the negative impacts of stress.