What Is Common Variable Immunodeficiency?

Common variable immunodeficiency (CVID) is an immune system disease. It's known as a "primary immunodeficiency."

The body's immune system fights infections by making antibodies. Antibodies are blood proteins that detect and destroy invading germs such as bacteria and viruses.

In CVID, the immune system doesn't make enough antibodies, which makes people with CVID vulnerable to infections of all kinds.

How Common Is CVID in Kids?

CVID is the most common of all the primary immunodeficiency rare diseases. It affects one in 25,000 people.

Doctors most often diagnose it in adults. Only about 20% of people with this disorder get diagnosed when they're kids.

Symptoms can start anytime between childhood and adulthood.

Doctors often misdiagnose kids with frequent or unusual infections. They don't suspect CVID often until later. This is why most people diagnosed with CVID are in their 20s and 30s.

There are many types of CVID, and the symptoms of this disease can vary greatly, even among people with the same type.

Causes of CVID in Kids

We don't know the precise causes of most cases of CVID.

There appear to be several genetic changes that can lead to this health issue. These changes decrease the levels of antibodies in the blood, making it hard for immune cells to do their job.

Doctors can only pinpoint the exact genetic cause in about 10% of CVID cases.

There are 13 distinct genes researchers have associated with this health issue. And they're working to identify more genes.

Most of the time, these genes change on their own. Sometimes, a child inherits a defective gene from their parents that causes CVID.

Both parents must carry a genetic change that causes CVID for their child to get it. But it's possible that they don't know they have the gene, as they may not have symptoms of the disease.

Common Variable Immunodeficiency Disease Symptoms

Symptoms of CVID are much the same as symptoms of other childhood illnesses. But they may be longer-lasting and more severe.

Some of the symptoms are:

• Sinus, lung, or other respiratory infections that keep coming back.
• Eye and ear infections.
• Skin infections.
• Nausea or vomiting.
• Diarrhea.
• Slow growth or trouble gaining weight.

CVID Complications

Kids with primary immune deficiencies like CVID are:

• More prone than others to getting infections.
• Slower to clear infections from their bodies.
• At risk for recurrent pneumonia. This can cause permanent damage to the lungs, leading to severe health problems into adulthood.

CVID may also make a child more vulnerable to health conditions such as:

• Anemia.
• Rheumatoid arthritis.
• Inflammatory bowel disease.
• Infections of intestinal parasites.

Diagnosing Common Variable Immunodeficiency

Doctors diagnose CVID through blood testing to measure the level of antibodies in the blood. Testing for antibodies and specific other proteins in the blood lets us see how well the immune system functions.

Your child may also need chest x-rays and other body scans. These tests will let us see if CVID has caused damage to the lungs or other organs and bones.

Pediatric CVID Treatment

The goal of treating CVID is to control the symptoms of this disease and improve your child's quality of life.

Kids with CVID may need aggressive treatment for their infections. Sometimes, doctors prescribe antibiotics to prevent, instead of treat, infections.

Kids may have therapy to give them more antibodies, called immunoglobulin replacement therapy, on a continuing basis. This therapy treats the body's lack of antibodies but doesn't cure the disease.

If CVID is causing severe health problems, a bone marrow or cord blood transplant may help rebuild the immune system.

Kids with lung disease or lung failure may even need a lung transplant.

The Hillman Center for Pediatric Transplantation has the only program in the world that offers tandem lung and bone marrow transplants.

We also pioneered a reduced-intensity bone marrow transplant program. The program helps reduce the adverse effects a bone marrow or stem cell transplant has on the body's organs.

Transplants are high-risk treatments. They also mean your child may need to remain on medicine for their whole life.

Paul Szabolcs, MD

Chief, Blood and Marrow Transplantation and Cellular Therapies

Dr. Szabolcs is a pioneer in "reduced-intensity" pediatric transplants for rare immune disorders. He also developed surgery to replace the lungs and bone marrow using tissue from the same donor to treat CVID. This replaces both damaged lungs and the immune system.

Your Child's CVID Consult and Care: What to Expect

If a doctor diagnosed your child with common variable immunodeficiency, we want you to know you're not alone. The Center for Rare Disease Therapy is here to help.

To make an appointment for your child or refer someone to CVID care, contact us:

• Phone: 412-692-7273.
• Email: rarecare@chp.edu.

Here's what you can expect when you come to us for your child's first CVID consult.

How soon can I get an appointment for my child's CVID?

We can often make a first visit appointment within one to two weeks. We'll ask the referring doctor to send your child's medical records so we can look through them before your visit.

What should I expect at my child's first visit for CVID care?

Your first visit to the center for your child's CVID exam will take four to six hours. Your child will receive a complete assessment from one of the center's doctors.

The doctor will make or confirm a CVID diagnosis and find out how much the disease has progressed.

Because we work as a team at the center, other doctors and staff might see your child during your visit.

These may include a:

• Neurologist.
• Heart specialist.
• Surgeon.
• Nutritionist.
• Genetic counselor.
• Psychologist.
• Child development specialist.

What are the next steps after my child's CVID visit to the Center for Rare Disease Therapy?

Members of your child's CVID care team will talk with you about:

• Likely next steps for your child.
• CVID treatment options.
• Ways to help your child's quality of life at home.

If surgery might be an option for treating your child's CVID, we'll discuss all the details. We'll let you know how you and your child can prepare.

By the end of your visit, you'll have a CVID care plan tailored to your child's needs. We'll also schedule a follow-up visit in 3 months.

You'll meet our nurse practitioner. You can contact them by phone or video conference with any concerns before your next visit.

Before you leave, please ask us about your child's CVID diagnosis, treatment, or anything else on your mind.

How long will I need to wait for my child's CVID test results?

We'll call within two weeks to review the test results and the next steps for your child's CVID care.

You can also find your child's test results if you have a myCHP account — Children's patient portal.

myCHP lets you manage your child's health online. It's free for kids getting treatment at UPMC Children's Hospital of Pittsburgh and their loved ones.

Partners in Your Child's CVID Care

A child with a rare disease like common variable immunodeficiency syndrome affects the whole family. We see each family member as our partner at the Center for Rare Disease Therapy.

The best care happens when we merge our CVID expertise with your knowledge of your child's needs.

Contact us to learn more about CVID or make an appointment for your child:

• Phone: 412-692-7273.
• Email: rarecare@chp.edu.

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