What Is Common Variable Immunodeficiency?

Common variable immunodeficiency (CVID) is an inherited condition of the immune system. It's known as a "primary immunodeficiency."

Children inherit the CVID gene from their parents. Both must carry the genetic mutation for CVID, but may not have symptoms of the disease.

The body's immune system is responsible for fighting infections by producing antibodies. Antibodies are proteins in the blood that are supposed to detect and destroy invaders such as bacteria and viruses.

In CVID, the child's immune system is not producing enough antibodies, which makes the child vulnerable to infections of all kinds.

How Common is CVID?

CVID is the most common of all the primary immunodeficiency rare diseases.

It is found in about one in 25,000 people.

It is most often diagnosed in adults. Only about 20% of those affected with this disorder are diagnosed as children.

CVID Disease Symptoms

Symptoms of common variable immunodeficiency are much the same as symptoms of other childhood illnesses. However, the symptoms may be longer-lasting, and more severe.

Some of the symptoms are:

  • Respiratory infections that keep coming back including sinus and lung infections.
  • Eye infections.
  • Ear Infections.
  • Skin infections.
  • Nausea or vomiting.
  • Diarrhea.
  • Slow growth or difficulty gaining weight.

Complications of Common Variable Immunodeficiency

Children 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 that can cause permanent damage to the lungs, causing 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 serum immunoglobulins (antibodies). Testing for certain immune markers in the blood lets us see how well the immune system is functioning.

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.

Common Variable Immunodeficiency Treatment

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

Children with CVID may need aggressive treatment for their infections. Sometimes, doctors prescribe antibiotics even when a child doesn't have any infections to prevent them.

Children may also be treated with immunoglobulin replacement therapy on a continuing basis. This therapy is a treatment, and does not cure the disease.

If CVID is causing severe health problems — such as lung disease or lung failure — your child may benefit from a bone marrow or cord blood transplant, and even 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 negative effects a bone marrow or stem cell transplant has on the body's organs.

Because transplants are high-risk treatments, your child may need to remain on lifelong medication.


Paul Szabolcs, MD

Chief, Bone Marrow Transplantation and Cellular Therapies

A pioneer in reduced-toxicity/intensity unrelated donor cord blood transplantation for inborn errors of immunity, Dr. Szabolcs is the first to demonstrate the feasibility of sequential lung and bone marrow transplantation from the same unrelated cadaveric donor.


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 a patient for CVID care, contact us by:

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 common variable immunodeficiency?

We can often see a new patient within 1 to 2 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 from 4 to 6 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 here 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.
  • Options for treating common variable immunodeficiency.
  • Ways to care for your child at home to help improve his or her quality of life.

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 will 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 (NP). You can contact our NP by phone or video conference with any concerns you have between now and your next visit.

Before you leave, please feel free to 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 2 weeks to go over 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 service for patients, parents, and guardians of Children's Hospital of Pittsburgh of UPMC.

Partners in Your Child's CVID Care

When a child has a rare disease like common variable immunodeficiency syndrome, it affects the whole family.

At the Center for Rare Disease Therapy, we see each family member as our partners.

The best care approach 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:


Center for Rare Disease Therapy patient storiesMeet Our Patients — Center for Rare Disease Therapy

Learn how families are finding help and hope at the Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC. View Center for Rare Disease Therapy patient stories. »

 

 


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