7 Treatment Options for Primary Immunodeficiency

Primary immunodeficiency (PI) disorders are a group of rare but diverse conditions — more than 500 have been identified. PI disorders are caused by inherited genetic mutations (changes) that affect how the immune system works. People with primary immunodeficiency are more likely to get infections, which can be frequent, hard to treat, or more serious than usual.

Thanks! You've successfully submitted your vote.

Sign up to view the results!

Continue with Facebook

Sign up with your email

By joining, you accept our Terms of Use, and acknowledge our collection, sharing, and use of your data in accordance with our Health Data and Privacy policies.

Already a Member? Log in

The effects of PI on health and daily life can range from relatively mild to severe. Although most PI conditions don’t have a cure, early diagnosis and treatment can help people manage symptoms and stay healthier longer.

There are many ways to treat primary immunodeficiency. Some treatments can be used for many types of PI, and others are specific to certain conditions. In this article, we’ll look at a few of the most common treatment options.

1. Infection Prevention

Prevention is an important part of managing primary immunodeficiency. Although not a treatment itself, infection prevention helps lower the chances of getting sick, especially from common germs. The following strategies apply to people with mild to moderate PI conditions.

Hand-Washing Hygiene

Washing your hands regularly is one of the best ways to protect yourself. People with PI — and those who live or work closely with them — should be extra careful about hand hygiene. This is especially important when using public transportation or working outside the home.

Vaccination

Caregivers and close contacts of people with PI should be up to date on recommended vaccines. People with PI often don’t respond well to vaccines or can’t get certain ones because of the risk of side effects, so it’s important that those around them are protected.

Travel Precautions

If you’re planning to travel, take a few extra measures to prevent infection. Depending on your destination, your doctor may recommend that you:

• Drink only bottled water.
• Avoid fresh produce.
• Take prophylactic (preventive) medications before or during your trip.

It’s also important to have an emergency treatment plan in case you get sick while away from home.

Prophylactic Antimicrobials

Prophylactic treatment involves taking medicine to prevent an illness before it starts. Antimicrobial drugs help protect against bacteria, viruses, or fungi. Your doctor may suggest using prophylactic antimicrobials to help you avoid common infections.

Infection Prevention for Severe Primary Immunodeficiency

Some PI disorders, such as severe combined immunodeficiency (SCID), require stricter measures. These conditions are usually diagnosed in infants and children. People with severe PI disorders might need to be isolated at home or in the hospital to help them avoid life-threatening illnesses.

2. Immunoglobulin Therapy

Immunoglobulin therapy helps strengthen the immune system in people who can’t make enough antibodies on their own. Antibodies — also called immunoglobulins — are proteins that help your body fight off infections from bacteria, viruses, and fungi.

In many types of PI, the body doesn’t make enough working antibodies. Immunoglobulin therapy replaces these missing antibodies using medicine made from donated human plasma (the liquid part of blood).

The protection against infection lasts only one to four weeks, so people usually need treatment throughout their lives. The medication can be given intravenously (through a vein) or subcutaneously (through the skin). Both methods are effective, but they have different pros and cons. For example, the IV route requires medical supervision, usually at a clinic or hospital, but sometimes at home with support from a nurse. Subcutaneous infusion can be done at home without medical supervision.

Specialized Immunoglobulin

Standard immunoglobulin therapy contains antibodies to many common germs. Sometimes, however, people with PI need extra protection against specific infections. In these cases, doctors may use specialized immunoglobulin made from donors with high levels of antibodies against a particular virus. This type of treatment may be used to help protect against infections such as:

• Chickenpox
• Respiratory syncytial virus
• Cytomegalovirus (a common virus that usually causes mild flu-like symptoms or none at all)

These illnesses are usually mild for most people, but can be life-threatening for those with certain PI conditions.

3. Hematopoietic Cell Transplantation

In severe PI conditions, hematopoietic cell transplantation (HCT) — also called bone marrow transplant or stem cell transplant — may be an option. This procedure replaces the nonworking immune system with healthy immune cells from a donor.

During HCT, stem cells from a donor’s bone marrow are given to the person with PI. These donor cells live in the bone marrow and continue growing and dividing to make new, working immune cells. If the transplant is successful, the person with PI gains a functioning immune system — and in some cases, it may be considered a cure.

HCT is more effective for certain types of PI, and it isn’t right for everyone. The procedure takes a long time, comes with significant risks, and requires a long recovery period. Your healthcare team will help you decide whether this treatment is safe and appropriate for your condition.

4. Enzyme Replacement Therapy

Some forms of severe PI are caused by problems in how immune cells process nutrients and remove waste. When the cells are missing pieces to do this properly, they can’t function correctly, which can lead to immune system problems. One example is ADA-deficient SCID. “ADA” stands for “adenosine deaminase,” an enzyme that helps immune cells get rid of waste.

Enzyme replacement therapy gives the body a lab-made version of the missing ADA enzyme. This treatment, known by the brand name Revcovi, is given as an injection. Because enzyme replacement therapy can have long-term side effects, it’s usually prescribed as a temporary measure while someone is waiting for HCT or another long-term therapy.

5. Thymic Transplantation

Some people with primary immunodeficiency are born without a working thymus — a small organ in the upper chest where white blood cells called T cells are made. Without T cells, the immune system can’t fight infections effectively.

The most common cause of a missing thymus is a severe type of PI called DiGeorge syndrome, also known as 22q11 syndrome. A curative treatment for this condition is thymus transplant. This procedure places healthy thymus tissue from a donor into the person with PI. After a successful transplant, the new thymus helps the body produce functioning T cells — and rebuild a stronger immune system.

6. Gene Therapy

Another potential cure for some types of PI is gene therapy. Like HCT, gene therapy aims to restore a healthy immune system, but it doesn’t require a donor. In gene therapy, your own stem cells are taken out of your bone marrow, and the mutation causing your PI is corrected. The edited cells are put back into your body, where they continue to grow in your bone marrow.

Because gene therapy uses your own cells, it avoids some of the risks linked to donor transplants. However, it’s still a complex procedure and considered experimental. In the United States, you can only receive gene therapy for PI as part of a clinical trial — a research study to test the safety and effectiveness of a new treatment.

7. Treatment of Common PI Complications

Many people living with primary immunodeficiency experience complications or develop related conditions caused by their specific gene mutation. These conditions include:

• Chronic (long-term) infections
• Lung damage
• Digestive tract issues
• Autoimmune disorders, in which the body attacks its own tissues or organs
• A higher risk of some types of cancer

Managing these complications is an important part of a full treatment plan. For instance, digestive tract or autoimmune issues might be treated with drugs that calm the immune system. People at higher risk of cancer may need more frequent screening tests.

Dental, hearing, and vision care are also especially important for people with PI. Infections can more easily affect the mouth, ears, and eyes, and some medications can cause side effects in these areas.

In addition, people with PI should pay attention to their mental and emotional health. The ups and downs of managing symptoms, undergoing long treatments, or recovering from complex procedures can be stressful. It’s also important to plan for major life transitions — like moving from pediatric care to managing your own health as an adult.

If you have more questions about how to treat primary immunodeficiency, talk with your healthcare provider. They can help you understand your options and build a care plan that fits your needs.

Talk With Others Who Understand

On myPIteam, people come together to learn more about life with primary immunodeficiency disorders.

Have you or a loved one been diagnosed with a primary immunodeficiency disorder? What types of treatments have you had for your condition? Share your tips and experiences in a comment below.