New Resarch Regarding Development of Autoimmunity in Patients with CVID

The results of a CVID study were recently published in the Journal of Clinical Investigation. In this study, Yale researchers Eric Meffre and his colleagues found that CVID patients with a single mutation in the tumor necrosis factor receptor superfamily (TACI) led to development of autoimmune diseases; whereas those with two mutations of TACI did not develop autoimmune diseases.

"When associated with CVID, a single TACI mutation predicts the development of autoantibody-mediated autoimmune disease, whereas patients with two mutated alleles are mostly spared clinical autoimmune conditions, suggesting a complex role for TACI in maintaining B cell tolerance" (From article: CVID-associated TACI mutations affect autoreactive B cell selection and activation, Published September 24, 2013)

A recent article published by Science Codex (Development of Autoimmunity in Patients with Common Variable Immune Deficiency) explained the findings more clearly for those of us without advanced biology degrees: 

"The (research study) authors found that CVID patients with a single altered TACI allele maintained some residual B cell responsiveness that promoted development of autoantibodies, whereas individuals with 2 mutated copies of TACI have complete impairment of B cell responses, which likely prevents autoimmunity."

My question, is it truly better to have total impairment of B cell responses? I grant that being free of autoimmune diseases is a blessing, but what about the little infection-fighting that we have with some B cell responsiveness? I don't understand the biological terminology in the Journal of Clinical Investigation article enough to tell whether there is enough B cell responsiveness left in people with only one TACI mutation to fight infections. If so, which is more beneficial? At the very least this research answers some of our questions about why we can develop autoimmune diseases with broken immune systems. For those of us with CVID, answers are truly a gift. Thank you, Eric Meffre and colleagues for your efforts.

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.

A Positive Twist

I recently read a book on gratitude and it said to be grateful for your good health. At first take it came across as callous: I thought "this person has no idea what it's like to have a serious disease that interferes with a normal life". The book went on to say that the gift of health is keeping us alive, and that gave me new insight into my own health. My body has been through so many infections, injuries, and trauma that it's amazing that I'm still here and feel as good as I do. Perhaps, then, I have been given a greater gift of health than a "healthy" person because I have lived through all of these things and am still around. At the very least it is a testament to my strength and endurance. If strength and endurance are evidence of good health, then I think all of us zebras have it in abundance. This way of thinking gives me hope and something to be grateful for, and I hope that it might give some of you a boost for your day.

P.s. I now have a post-it that says "The gift of health is keeping me alive" on my bathroom mirror, and it gives me strength.

Rest in Peace...

I'm sad to report that two members of my CVID support group succumbed to complications of the disease over the last few weeks. One had a staph infection that got out of control, and the other aspirated during port surgery.

Very sad news. Rest in peace.

Duke University Received 1.3 Million for CVID Research

I learned yesterday that Duke University received a donation of 1.3 Million dollars for research into CVID. According to the The Chronicle (Duke University's newspaper), the donation funds will be used to "research the genetic mechanisms that give rise to CVID" Duke Chronicle. This research could help improve diagnostic criteria that will help identify CVID patients earlier in life, and potentially prevent long-term damage from infections.

Duke University has been named one of the United States' top hospitals and is located in Durham, North Carolina.

(Photo from Google Pictures_Duke University)

A Special Recommendation

I have been making a lot of changes in my life to improve my health, and have stumbled upon a few products that seem to really help. One of them is a Himalayan Salt Inhaler. I bought it after finding that I recovered more quickly than usual after a respiratory infection when I used sea salt in my vaporizer at night. I have now been using it for a few weeks, and it helps my lungs so much! I've been using it daily, and when my lungs feel so congested that I'm afraid I might be getting sick again. The amazing thing is that, unlike anything I've tried before, it takes away the congestion! I also seem to have more strength and energy than I've had in many years! I'm so excited and have more hope than I've had in a very long time!



There are many different brands of salt inhalers available, but this one is ceramic and has holes (many small and one big for filling) in the bottom like a salt shaker. It arrived with 2 packets of pink Himalayan sea salt crystals. The manufacturers recommend using a packet of salt per month. Just as in ceramic salt shakers, you pour the crystals into the bottom of the inhaler and there is a little plastic plug that fits in the hole. Inside the inhaler, below the mouthpiece, is another layer of ceramic with salt-shaker holes. To use the inhaler, you shake it and with the mouthpiece up, inhale deeply. After holding your breath as long as possible, exhale through your nose. That allows the salt to treat your sinuses as well. The manufacturer recommends using for 10 minutes twice daily. That sounds like a bit of a burden to me, so I sit with it next to me as I go through my day. I even take it to work with me and use it at my desk! I've gotten some weird looks, but I don't care...it makes me healthier! :)


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My November '11 Appointment with the Immunologist

I saw my Immunologist yesterday, and I was able to put my mind at ease over some of my concerns regarding stopping my infusions. I have been worried that I had no antibodies to the kinds of diseases that children get immunized for, and my immunologist showed me my most recent test results (2 months after stopping infusions),  and said that I have antibodies to those diseases. The part that I'm lacking is in defense against pneumonia-causing organisms like mycoplasma and other nasty things like that. He said that it's actually pretty common for CVID patients to have antibodies to most other diseases and just be lacking in defense against pneumonia. That really puts my mind at ease.

The one thing I forgot to ask him about is my hair falling out. I am a woman with long straight hair, and I wash it, condition it, and comb it. Lately it's been falling out by handfuls. I'm getting concerned and don't know whether it's CVID related. However, there are quite a few people in my support group who have the same issue.

I have now been off of my infusions for 6 months and off of Trileptal for 4 months, so yesterday they did some bloodwork to determine whether my antibodies are recovering now that I'm off of the Trileptal. I should know the answer in a few weeks! It would be so amazing and wonderful if I could recover and not have CVID. Of course, I may still be IgA deficient after this, but that would still be better than full-blown CVID!

On the downside, I'm on my 3rd round of antibiotics (in addition to the prophylactic ones) to kick what I believe is pneumonia. Originally I was sick for 4 or 5 days and seemed to recover on my own. I thought it was a good sign. Then about a week later I realized that I had not only a sinus infection but that it was moving into my lungs. I called for antibiotics, and they told me to take triple my normal dosage for 4-5 days then call to let them know how I was doing. I called on the specified day, and since I seemed to be feeling better and hadn't heard from them, I dropped back down to my maintenance dose the next day. That night I went to bed early and woke up about 9:00 PM with significant chest congestion. I made myself some hot lemonade to help loosen my chest up, and went back to bed. When I woke up the next morning I was so sick and so weak that I had difficulty walking just the few feet to my bathroom. I called the Dr back and they said to take double my normal prescription twice daily for 3 weeks (that was a week ago). I've done that, and have felt my strength returning, but I'm still so weak that I need a wheelchair rather than walking any distance. When I saw my Dr yesterday he believed that I could well have had pneumonia, said I was very pale, and put me on a 3-week course of Cipro. He said it's good at fighting all the nasty little beasties that cause pneumonia.

I started the Cipro today, so hopefully I'll feel much better in a few days/weeks.