Demystifying Primary Immunodeficiency Treatment

Primary immunodeficiency (PI) is a group of more than 400 chronic disorders, including many rare diseases, in which part of the body's immune system is missing or does not function properly. This can make people with PI more susceptible to infections. Fortunately, various treatments are available to help manage PI and improve the quality of life for patients and their families.¹

Understanding primary immunodeficiency treatment

Once diagnosed, the main goals of PI treatment are to prevent and fight infections, help the immune system work better, and, in some cases, address the underlying problem. The specific treatment depends on the type of PI a person has.^1,2

Treatment strategies for PI may include:^1,2

• Preventing and treating infections
• Immunoglobulin (Ig) replacement therapy
• Stem cell transplantation
• Gene therapy

Preventing and treating infections

A very important part of managing primary immunodeficiency is preventing and quickly treating infections. Because your immune system does not work as it should, infections can be more serious and harder to treat.^1,2

Preventing infections

There are many things you can do to help prevent infections, like:^1-4

• Practicing good hygiene – A simple but powerful tool. Washing your hands often and thoroughly with soap and water is crucial. Taking good care of your teeth is also important for overall health and immunity.
• Avoid illness exposure – Try to stay away from people who are visibly sick, including those with coughs, fevers, or runny noses.
• Stay up to date on vaccines – Vaccinations help protect against many common infections. However, some vaccines, especially those that contain live viruses, may not be safe for people with certain types of PI. Talk to your healthcare provider about which vaccinations are safe and recommended for you.
• Healthy habits – Eating a balanced diet, getting enough sleep, and exercising regularly can help support your overall health and well-being, which can in turn help your body better handle infection risks.

Treating infections

If you do get an infection, it is important to treat it early. Infections in people with PI often require antibiotics or antiviral drugs.¹

You may need to take these medicines for a longer time than someone without PI would. If an infection is serious or does not respond to oral medicines, you may need to go to the hospital for intravenous (IV) antibiotics.^1,2

Immunoglobulin (Ig) replacement therapy

A common and effective treatment for many types of PI is immunoglobulin (Ig) replacement therapy. Immunoglobulins are antibodies that the body naturally produces to fight off infections. In people with PI, these antibodies may be low or absent.^5,6

Ig replacement therapy provides the body with the missing antibodies that help to protect against infections. There are 2 main ways to receive Ig replacement therapy:^5,6

• Intravenous immunoglobulin (IVIG) – given directly into a vein, typically in a medical setting like a hospital or infusion clinic. This method delivers a large dose of immunoglobulin quickly.
• Subcutaneous immunoglobulin (SCIG) – given under the skin. This can be done at home, offering greater flexibility and convenience for many patients.

Stem cell transplantation

Stem cell transplantation is typically reserved for severe forms of PI that cause significant harm or are life-threatening. During a stem cell transplant, a person receives healthy stem cells from a donor (sometimes a sibling or relative if one has a very close match to your tissue type). These new, healthy stem cells can then produce a fully functioning immune system.⁷

It is a complex procedure with risks. However, for those who are good candidates, it can lead to a long-term cure. Your healthcare team will discuss if this option is right for you, considering the specific type of PI you have and your overall health.⁷

Gene therapy

Many primary immunodeficiencies are caused by a single faulty gene. Gene therapy aims to fix this problem.⁸

Gene therapy involves taking some of your own hematopoietic stem cells (the "master cells" that make immune cells) and, in a laboratory, either a healthy, working copy of the missing or faulty gene is put into these stem cells, or the gene is edited directly. Then, once the new gene is inside your cells, the modified stem cells are given back to you through an IV infusion.⁸

At this time, gene therapy is not approved by the U.S. Food and Drug Administration (FDA) to treat primary immunodeficiency. However, gene therapy is approved for other conditions and is available through clinical trials for several types of PI in the United States. This means it is not yet a standard, FDA-approved treatment for all PIs, but it is showing great promise. Talk with your doctor about whether you qualify to participate in a clinical trial.⁸