Common Variable Immunodeficiency: Overview and more (2023)

Common variable immunodeficiency(CVID) is an immune system disease that causes low antibodies, which reduces the body's ability to fight off infection. As a result, people with CVID are highly susceptible to frequent, and sometimes serious, infections, as well as complications from those infections.

This article provides an overview of CVID, including symptoms, causes, diagnosis, and treatment.

symptoms

The hallmark symptom of CVID is recurrent and potentially serious viral or bacterial infections.The exact symptoms differ depending on what type of infection the person has.

For example, different types of infections (eg, upper respiratory tract infections, gastrointestinal infections, ear infections) will all present with very different symptoms. However, it is the frequent recurrence of these infections that suggests a warning sign of CVID, rather than precise symptoms of the infection itself.

SomeSymptoms of CVIDcould include:

• Chronic cough, sometimes produces mucus
• Runny nose
• Swollen lymph nodes
• Atemprobleme
• Fever
• earache
• Diarrhea
• nauseaor vomiting
• lung infection

Because of the frequency and/or severity of infections, a person with CVID is also at risk for certain complications. The usualThe CVID complicationcontain:

• Septic Arthritis
• Autoimmune diseases, especially cytopenias
• abnormal liver function
• Bronchial tases
• Granuloma
• Bad vaccine response
• Certain types of cancer, especiallylymphoma
  

causes

CVID is thought to be caused by mutations in certain genes that affect the immune system — specifically, mutations in the genes that affect B-cell production, maturation, and function.

B cellsare a type of white blood cell that producesantibody. Antibodies are the Y-shaped proteins that help us fight off infection. CVID causes a deficiency in these antibodies.

To date, over 20 different genetic mutations have been identified that either cause CVID or increase a person's risk of developing CVID.The most common are mutations in the TNFRSF13B gene (about 8% of CVID cases) and in the NFKB1 gene.

Most of these genetic mutations are sporadic, but some can be passed down families. This can occur through both dominant and recessive inheritance.

However, it is important to note that identified genetic mutations only explain 10% to 20% of CVID cases.For the majority of people with CVID, there is no identifiable cause.

This leads researchers to believe that environmental factors play a role in the development of CVID, although we do not currently know what those environmental factors might be. There are also likely many other genes that cause CVID that have yet to be identified.

Diagnose

After collecting a medical history of recurrent infections,CVID can be diagnosedthrough a series of blood tests.

This includes tests such as:

• Serum immunoglobulin tests
• Complete Blood Count (CBC)
• C-reactive protein test
• liver function test
• renal function tests
• Vaccine Antibody Testing

To be diagnosed with CVID, a person must have low levels of immunoglobulins (antibodies). These include low IgG and either IgM or IgA.It also requires a poor response to vaccines and the absence of another disorder that causes immune deficiency.

diagnostic delay

Receiving a CVID diagnosis can be challenging in a number of ways:

• A person can become accustomed to their frequent infections, considering them a “fact of life,” and subsequently delay seeking medical care.
• Because it is a relatively rare condition, many healthcare providers do not know enough about CVID to properly diagnose it.
• CVID mimics other disorders and can only be diagnosed as a diagnosis of exclusion if those disorders are ruled out, which can complicate diagnosis.
• Finally, in the past, even experts have disagreed on the diagnostic criteria for CVID, such as whether a poor vaccine response is required to have CVID.

As a result, diagnosis can be delayed by four to nine years from the onset of symptoms.

This is a significant problem because the longer CVID goes untreated, the more complications it can develop, which can affect life expectancy. Therefore, it is important to get an accurate diagnosis in a timely manner if you have symptoms of CVID.

Treatment

The MainstayTreatment for CVIDis an immunoglobulin (antibody) replacement therapy.It uses the blood donated by healthy people and essentially restores the antibodies in a person's body to normal levels so they can better fight off infection.

Immunoglobulin replacement therapy can be administered either by intravenous (IV) infusions or subcutaneous injections.The exact frequency and dosage should be determined individually based on the person's response to the antibody level.The treatment is lifelong.

Another aspect of CVID treatment is the treatment of active infections. Even with immunoglobulin replacement therapy, a person with CVID can get more infections than the average person. This treatment depends on what type of specific infection the person has, but may include antibiotics, antivirals, over-the-counter (OTC) therapies, and more.

forecast

The good news is that life expectancy for people with CVID has improved significantly over the past 30 years, from just 12 years after diagnosis to over 50 years.This is due in large part to the pioneering work of immunoglobulin replacement therapy as a CVID treatment.

However, some factors can reduce a person's life expectancy. These include:

• Older age at diagnosis
• Lower B cells
• Lower baseline IgG at diagnosis
• Complications such as structural lung damage (bronchiectasis or granuloma), chronic hepatitis, lymphoma or chronic gastrointestinal disease

Therefore, it is important to get a prompt diagnosis of CVID to avoid these complications.

The majority of people who receive immunoglobulin replacement therapy find that they have fewer infections and a better quality of life.

Summary

Common variable immunodeficiency is an immune system disorder characterized by low antibodies. It reduces the body's ability to fight off infection, resulting in frequent and recurring infections. The main treatment option is immunoglobulin (antibody) replacement therapy, but any infections due to CVID must also be treated.

A word from Verywell

It's possible to live a full and active life with CVID, but some adjustments are needed. These include regular treatment with immunoglobulin replacement therapy and lifestyle changes to prevent infection. Finding a healthcare provider to help you diagnose or manage your CVID is an important first step in living with this condition.