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Common Variable Immunodeficiency

What is Common Variable Immunodeficiency?

Under the name of common variable immunodeficiency (CVID) are enclosed a group of disorders of the immune system with different underlying causes but similar symptoms. This syndrome is characterized by the inability to produce antibodies, the natural defence of the body against foreign substances like microorganisms and toxins, and hence these individuals suffer from recurrent infections. 

The specific causes that trigger the development of the disease are unknown in the majority of the cases. It is thought to be caused by a combination of genetic and environmental factors. In most of the cases, CVID occurs sporadically in individuals with no family history of the condition. However, family history of immune related diseases increased in 20% of patients. In rare instances, doctors have determined the genetic cause of the disorder. This involved a defective change in a specific gene required for the development or function of immune cells. These gene changes can be inherited in an autosomal dominant or recessive manner.

 

Synonyms

  • Common variable hypogammaglobulinemia
  • Common variable immunodeficiency
  • Late-onset immunoglobulin deficiency
  • Inherited hypogammaglobulinemia
  • CVID
  • CVI

Under the name of common variable immunodeficiency (CVID) are enclosed a group of disorders of the immune system with different underlying causes but similar symptoms. This syndrome is characterized by the inability to produce antibodies, the natural defence of the body against foreign substances like microorganisms and toxins, and hence these individuals suffer from recurrent infections. 

The specific causes that trigger the development of the disease are unknown in the majority of the cases. It is thought to be caused by a combination of genetic and environmental factors. In most of the cases, CVID occurs sporadically in individuals with no family history of the condition. However, family history of immune related diseases increased in 20% of patients. In rare instances, doctors have determined the genetic cause of the disorder. This involved a defective change in a specific gene required for the development or function of immune cells. These gene changes can be inherited in an autosomal dominant or recessive manner.

Rareshare would like to acknowledge Hassan Abolhassani, MD, PhD, Division of Clinical Immunology at the Department of  Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge for reviewing this content.

CVID prevalence is estimated to be in between 1:50,000 to 1:25,000, however in regions with a high rate of related marriage can increase to 1:10,000 to 1:5,000.

Name Abbreviation
Common variable hypogammaglobulinemia CVID
Common variable immunodeficiency CVID
Late-onset immunoglobulin deficiency CVID
Inherited hypogammaglobulinemia Inherited hypogammaglobulinemia
CVID CVID
CVI CVI

The most common cause is a failure in the development of certain white blood cells called B lymphocytes. These are the immune cells in charge of producing antibodies. But this is not the case in all of the patients and defects in other immune cell types and non-immune organs have been described. In order for the body to be able to defend itself from infectious agents, all the different cells and components within the immune system need to be functional to bring about a proper immune response. A defect in any of these different components could ultimately cause a defective immune system.


The failure in the antibody production in CVID patients is believed to be caused by a combination of genetic and environmental factors. So far, in only a few cases of the affected individuals, the genetic cause has been identified. Approximately 10% of the patients present a mutation in the TNFRSF13B (also known as TACI) gene, but the alteration of this gene does not determine the development of CVID given that there are family members of patients that are healthy even though they present the alteration. This underscores the multifactorial genetic and environmental component of this disease.

Since CVID refers to a group of diseases, the symptoms and their severity differ from person to person. The severity and specific symptoms also vary among CVID patients within the same family. The onset of the symptoms also varies greatly, from the early childhood to the adulthood. Most patients do not present symptoms until their 20-40s.
The deficiency of antibodies leads to recurrent bacterial infections, especially in the respiratory tract. If these infections are not prevented or treated, a complication known as chronic lung disease (the irreversible damage of the lung tissue) can be developed. Some individuals also present complications in the gastrointestinal tract due to infections or inflammation. This might provoke abdominal pain, bloating, nausea, diarrhea and weight loss.


The abnormal B lymphocyte maturation can induce an increased accumulation of these cells in the lymph nodes, liver or spleen, a condition known as lymphadenopathy, hepatomegaly or splenomegaly, respectively. 
People with CVID are more prone to develop certain types of cancer, especially lymphomas (uncontrolled proliferation of lymphocytes).


Some patients will present a complication known as an autoimmune disorder. These disorders are another problem of the immune system. In these disorders the immune cells do not recognize the healthy tissues of the body and mistakenly attacks them as if they were foreign. That those patients with CVID, with a not fully functional immune system, are able to yet develop an autoimmune disorder is something counterintuitive and not well understood.

The diagnosis is made by the presence of very low amounts of antibodies in the context of an unknown B-cell dysfunction; it is essentially a diagnosis by the process of elimination. A genetic test could potentially be helpful for treatment adjustment and family consulting.

There is not a single test to determine if a person has CVID, the diagnosis is made after a thorough examination. When a person presents the characteristic symptoms, the first step is to confirm a lower amount of antibodies than age specific normal range in a blood test. Then the CVID diagnosis is confirmed by both analyzing the family history of the disease and the determination of additional symptoms by running additional tests.

The primary therapy for CVID patients is immunoglobulin replacement therapy, which consists of the regular administration of antibodies either intravenously or subcutaneously. Immunoglobulin is another word for the antibody. This therapy replaces the missing antibodies and can help to prevent recurrent infections. However it mildly helps with non-infectious symptoms of the disease. If this therapy is unable or ineffective to control infections, antibiotics should be prescribed to get rid of the infections when they appear. It should be noted that the increased dose of immunoglobulin or the prophylactic (preventive) use of antibiotics may be considered only in special condition. If other complications arise, those should also be treated. In the case of severe autoimmune disease, steroids or other immunoregulatory drugs might be administered.
 

The prognosis depends on the complications associated with the disorder, being poor prognosis factors the development of severe autoimmune disease, tissue damage in the lung caused by the recurrent infections and the development of cancer. If there are no associated complications, the prevention of the recurrent bacterial infections by immunoglobulin replacement therapy provides an almost normal life expectancy.
 

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HelpAround Specialty Patient User Testing Created by krystalqle
Last updated 3 Jun 2020, 10:21 PM

Posted by krystalqle
3 Jun 2020, 10:21 PM

Hi Everyone! My name is Krystal, and I am part of HelpAround, a digital health startup that's looking for user feedback on a mobile platform that we're building. The app is designed to help chronic/rare disease patients and their support systems manage their specialty treatments by providing them with any necessary logistical, educational and community support. We're looking for patients who are willing to give us feedback so that we can provide our current communities with a better experience.If you're interested, the UX testing details are below:

  • Goal: Understand which app feature(s) are and are not user-friendly
  • Demographic: Any patient who is currently taking specialty meds
  • Duration: 1 hour (each session will consist of a series of tasks)
  • Platform: Likely Zoom

We would love to hear your opinions and see how we can help improve the patient journey for those with rare diseases. If you are at all interested, please feel free to email me at krystalle@helparound.cc. Thank you so much!

Is there anybody out there? Created by phelpsam
Last updated 20 Aug 2014, 07:08 AM

Posted by lancastermtn
20 Aug 2014, 07:08 AM

I have hashimotos and extremely low vitamin D. I am fortunate to have a Dr who worked at NIH before switching to west coast. He saved my life. I had total thyroidectimy in 2007 they found papillary carcinoma follicular variant. I have 5 children 2 have hypothyroid one has hashimotos. ..I also have celiac disease and 2 children have gluten intolerance or gluten sensitivity . IVIG was first round for me. . Had 2 yrs felt good rest felt sick. Hizentra which is immune globulin you do subcutaneous infusions you do at home has been life savor since stopping a IVIG which is super expensive. My Immune Dr is amazing and is so knowledgeable. .. what Dr calls you to check on you to make sure you are functioning. @phelpspam what state do u live in? If you don't want to disclose email me and I can give you this extraordinary DR who will not give up til he figures you out:) He us an extraordinary DR. More later Don't give up and don't settle. Go with your gut trust and MD who listens to you. I have been down guinea pig row 25 plus yrs and finally got EDS III diagnosis plus CVID which I had diagnosed years ago. Don't give up. Stay strong and keep asking questions. I have severe stomach and gastrointestinal issues so do 2 of my children diagnosed as well with IBS. TAKE CARE ASK QUESTIONS AND DON'T SETTLE. You can live a full life and overcome your circumstances Don't give up. Keep on :) hang in there. YOU ARE NOT alone!!!!!!!! Check Hizentra it's at home immune globulin therapy much cheaper than IVIG AND don't was six months...blessings to you

Posted by phelpsam
20 Aug 2014, 03:34 AM

I am not actually receiving treatment yet. I was diagnosed with CVID about 3 weeks ago by an immunologist. I also have Hashimoto's. I have a lot of stomach problems and pustular psoriasis, so my dr. tested me for Celiac. It was negative but he noticed my Vitamin D and IgG was low. He ran more tests and found my IgA was low too. I have built up antibodies to about half of the pneumonia vaccine strains and have responded very well to tetanus vaccine. However, he explained that I may have had the vaccine before CVID. He is concerned insurance wouldn't cover IVIG. He suggested I come back in 6 months to be retested and see where my immunoglobulin levels are before starting treatment. I think he is trying to build a case for insurance coverage. Is IVIG inevitable or is it possible to avoid treatment? I have been more sick in the last 4 years than I have my entire life. Although, I generally try to tough it out because my doctor is hesitant to write scripts, plus I feel like a hypochondriac sometimes. Is it better to have treatment even if the symptoms are not severe? I would say my symptoms are not life threatening but I wonder if I would feel better and have less illness. I would like to hear about others experiences.

Posted by lancastermtn
15 Aug 2014, 04:59 AM

Yes, there is somebody out here. Thank you for asking..... I am curious if anyone else is on Hizentra. I switched from IVIG back in 2009. Infusing at home is a blessing and I no longer have my veins blown and get sick for days after IVIG. I also have Ehlers Danlos Syndrome Type III which further complicates my CVID. But the Hizentra has kept my levels in a normal range and I very rarely get an infection unless I have surgery.

View Full Thread (1 more posts)
Community External News Link
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When I Had No Choice But to Go to the Hospital During COVID-19 for My Rare Disease 05/24/2020
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Immune Deficiency Foundation 07/19/2017

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Enrolling is easy.

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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

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Receive 50 grams of IVIG each month.

 

 

Started about 18 months and am told I will need to continue for the rest of my life.

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HelpAround Specialty Patient User Testing

Created by krystalqle | Last updated 3 Jun 2020, 10:21 PM

Genetic Testing or Research Studies

Created by | Last updated 8 Feb 2017, 04:52 PM

Is there anybody out there?

Created by phelpsam | Last updated 20 Aug 2014, 07:08 AM


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