New CVID Awareness Website and YouTube Video

A friend with CVID has been feeling inspired to spread CVID awareness, and for that reason has recently created the website, cvidawareness.org. The website is still being created but is available right now and already very informative. It will be a huge asset in educating people about CVID and Primary Immune Diseases. Please visit the website and learn all you can for yourself or your loved ones with Primary Immune Diseases.

In addition, he made a YouTube video that shows him creating the website. Please check it out!

New US Patent Granted for Immune System Gene Sequencing Method

There seems to be a lot of breakthroughs in the medical industry related to the immune system lately, and I'm so excited to hear about them! In fact, a recent article titled Adaptive Bio receives US patent for next generation immunosequencing field in Pharmabiz.com (an online pharmaceutical journal in India)  stated the following:

"Adaptive Biotechnologies Corporation...has obtained a notice of allowance in US Patent Application Serial No. 12/794,507, titled “Method of Measuring Adaptive Immunity""

Adaptive Biotechnologies has apparently come up with a new way of sequencing the adaptive immune system (Killer T Cells and B Cells) to aid in a range of applications related to immune system dysfunction. This technology will help the medical industry make advancements in the monitoring and treatment of cancer and other immune (and auto-immune) diseases.

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! :)

FDA Warning: Tygacil (tigecycline): Drug Safety Communication - Increased Risk of Death!!

I received this warning via email today and felt obliged to pass it on. I've never heard of Tygacil, but it is an IV drug used to treat complicated skin and skin structure infections (cSSSI), complicated intra-abdominal infections (cIAI)*, and community-acquired bacterial pneumonia (CABP), so I think this is an appropriate venue to share it.

"FDA notified health professionals and their medical care organizations of a new Boxed Warning describing an increased risk of death when intravenous Tygacil is used for FDA-approved uses as well as for non-approved uses." (from Drugs.com -- Tygacil (tigecycline): Drug Safety Communication - Increased Risk of Death)

The increased risk of death is only 0.7% compared to other antibiotics, but is still significant enough to be added to package warnings, and I expect most people would prefer to have this drug used when there are no other options left.

Be well my friends!

*Refer to the "Introduction" section of this article to get a better understanding of cIAI (from the World Journal of Emergency Surgery)

Results of New Research: We May be Able to Enhance the Immune System!

There seems to be a lot of research being done on the immune system these days, and that's good news for all of us! In fact, I just read an article tonight that researchers have discovered that the Killer T-cells of a person's immune system can be enhanced to fight infections. That may not directly help those of us with CVID, since our deficiency is usually in the B-cells, but it's still exciting for two reasons:

1. They are researching the immune system and some of that research will benefit those of us with CVID (Read: We are not forgotten!)
2. They are finding ways to improve the overall immune system

The study built on a theory from the former director of the Walter and Eliza Hall Institute (an Australian medical research facility), Sir Macfarlane Burnet, an Australian Nobel Prize Laureate. Apparently, he came up with the theory 55 years ago. The following quote is an excerpt from the article in The Vaccine News Daily:

"The team discovered the IRF4, an important protein activated in the killer T-cells, could be produced at different levels depending on how well the killer T-cells recognized infected cells. The researchers discovered that enhancing the levels of IRF4 could help to boost killer T-cells effectiveness in fight infections and other diseases." (From article: Enhancing Immune System May be Possible by Emma Rogers)

While it may come across as pandering for me to it here, I find the following handout from the Immune Deficiency Foundation (IDF) to explain the various cells of the immune system in a clear way that's actually kind of fun to read: Our Immune System.

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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