Primary immunodeficiency (PI) is a group of genetic disorders that disrupt the normal functioning of the immune system. There are more than 450 known types, and many new types have been defined as medical researchers have gained access to more advanced, accurate, and affordable techniques for examining genes and identifying gene mutations. As knowledge about PI has increased, medical researchers have also discovered new ways to treat PI—and new ways that PI may be treated in the future.
As with any form of immunodeficiency, PI interferes with the immune system’s ability to protect the body from infections (such as viruses, bacteria, and fungal infections) and other diseases (such as certain types of cancer).
Treatment for PI focuses on resolving infections, preventing future infections and diseases, and improving the functioning of the immune system. There are also therapies that can cure some types of PI, as well as therapies that are emerging or under development.
For anyone affected by PI, it will help to have resources and support. Resources and support can mean knowing where to find information—for example, “How do I find a specialist that treats PI?” or “Where do I learn about new therapies and clinical trials for PI?” Resources and support can also mean organizations that provide patient education, financial assistance, and opportunities to connect with other people whose lives have been affected by PI.
The websites below can help you get started:
Immune Deficiency Foundation
The Immune Deficiency Foundation provides information about all aspects of primary immunodeficiency and is a great starting point for anyone looking to learn about this group of disorders. The website includes pages of information about the immune system and genetics, which provide a useful knowledge base for understanding what’s happening in the body when a person has PI. There are also pages dedicated to many specific types of PI. Other pages offer strategies on living with PI, including taking care of mental health, talking about a diagnosis, managing PI at work, and advocating for a child with PI. You can also find information on support groups for people with PI and caregivers, as well as a clinician finder to help you locate PI specialists.
Primary Immunodeficiency Treatment Consortium
New advances in the understanding and treatment of PI depend on research studies, and research studies depend on study participants. If you are interested in participating in a study or clinical trial—or just learning more about studies and clinical trials—visit The Primary Immunodeficiency Treatment Consortium. This consortium is a research organization made up of scientists, immunologists, and other specialists who treat people with PI. A key focus of the group is making more healthcare providers and healthcare centers aware of how PIs present and how these disorders can be treated.
The Jeffrey Modell Foundation
The Jeffrey Modell Foundation is a global nonprofit organization that supports people living with PI and the healthcare providers that treat PI. The organization has funded research, medical conferences, travel grants for treatment, and tools for screening for PI. For families affected by PI, the site may be worth a visit for the kid-friendly education materials, the immunologist finder, and the newsletter.
National Organization for Rare Disorders
The National Organization for Rare Disorders (NORD) is a good starting point for learning about many health conditions. While there is not a page dedicated specifically to primary immunodeficiency, you can easily search for a specific type of PI—many are included in the database. NORD also offers the RareCare Patient Assistance Programs, which provide financial assistance for people with rare disorders who need help paying for treatment. Information on eligibility and how to apply can be found on the site.
Sources: Immune Deficiency Foundation. What is PI... + 5
- Immune Deficiency Foundation. What is PI?
- Giorgia Bucciol and Isabelle Meyts. Recent advances in primary immunodeficiency: from molecular diagnosis to treatment. F1000Research. March 19, 2020.
- Mayo Clinic. Primary immunodeficiency.
- Sung-Yun Pai, Kathryn Lurain, and Robert Yarchoan. How immunodeficiency can lead to malignancy. Immunology 101: What the Practicing Hematologist Needs to Know. December 10, 2021.
- Centers for Disease Control and Prevention. About Primary Immunodeficiency (PI).
- Boston Children's Hospital. Primary Immunodeficiency Disorders.
