INFO4PI - National Primary Immunodeficiency Resource Center
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About PI
Primary Immunodeficiency (PI) affects as many as 1 million Americans and 10 million worldwide. Yet, it is just beginning to receive widespread attention.

When a defect in the immune system is carried through the genes, it is called a Primary Immunodeficiency. More than 150 Primary Immunodeficiency diseases have been identified to date. They range widely in severity. Primary Immunodeficiency diseases are characterized by infections that can often be recurring, persistent, debilitating, and chronic.

Everyone should know the following vital facts about PI:
  • Primary Immunodeficiency diseases can go undetected because they do not have unique symptoms of their own. Rather, they appear as "ordinary" infections, often of the sinuses, ears, or lungs. They can also cause gastrointestinal problems or inflammation of the joints. Families and doctors are often unaware that the troubling conditions they are dealing with are actually rooted in a defect of the immune system.
  • The infections can be chronic. This means they keep coming back, sometimes frequently, and can be severe. They tend to require prolonged recovery, and the patient may respond poorly to a conventional course of antibiotics.
  • The diseases can strike males and females of all ages, though they frequently present themselves early in life. The more severe immunodeficiency diseases are detected most frequently in children.
  • Early diagnosis and treatment of Primary Immunodeficiency disease is essential to preventing the infections from causing permanent damage.
  • Research in Primary Immunodeficiency is central to progress in immunology. As medical science further illuminates the complexities of the immune system, patients are benefiting from a host of cutting-edge diagnostic tools and treatments. The problems presented by genetic immunodeficiency disease have challenged researchers and immunologists to reach improved diagnoses, treatments, and innovative new therapies. Promising results are being reported for immunodeficient patients using intravenous gamma globulin, bone marrow transplantation, enzyme replacement and genetically engineered proteins such as gamma interferon.
The result of research in this area of immunology is that our progress is quickly yielding positive benefits for victims of cancer, AIDS, asthma, autoimmunity and a wide range of pulmonary and allergic conditions.

How is Primary Immunodeficiency diagnosed?
Correct diagnosis of a PI disease begins with awareness of the 10 Warning Signs and the first step in diagnosing a Primary Immunodeficiency disease is a good evaluation. An immune system specialist (immunologist) can help with diagnosis and treatment. If you need help finding an immunologist, the
Find an Expert section of this website can help you locate a physician or medical center in your area.

Evaluation of the immune system may include:
  • Detailed medical history
  • Physical exam
  • Blood tests
  • Vaccines to test the immune response
At the time of the evaluation, your doctor will ask questions about your health. Frequent or unusual infections, prolonged diarrhea, and poor childhood growth are some symptoms of a possible Primary Immunodeficiency. Because some Primary Immunodeficiencies run in families, you may also be asked questions about your family history.

If a Primary Immunodeficiency is suspected, a series of blood tests and vaccines may be required. Blood tests will show if any part of the immune system is missing or not working properly. Vaccines may be given to test the immune system's response, i.e. its ability to fight invaders.

See the 4 Stages of Immunologic Testing for more on this process.

How is PI treated?
There are a variety of treatment choices for immunodeficient patients. At a minimum, the recurring infections can be treated with antibiotics. These can help prevent damage caused by chronic illness, improving a patient's chances for long-term survival while enhancing the quality of life.

Another important treatment intervention is antibody replacement therapy, often referred to as IVIG therapy. IVIG works by replacing the antibodies that the body cannot make on its own. IVIG is now an accepted treatment protocol for a range of Primary Immunodeficiency diseases. Individuals can learn more about antibody replacement therapy or IVIG, by visiting the following websites: Baxter Healthcare, CSL Behring, Grifols, and Octapharma.

In other cases, bone marrow transplants, gene therapy, or other alternative treatments may be appropriate.

What are the goals of treatment?
Doctors believe people with a Primary Immunodeficiency can lead active and full lives. A guiding objective of the Jeffrey Modell Foundation is to help people with PI regain or maintain control of their lives by:
  • Participating in work, school, family, and social activities;
  • Decreasing the number and severity of infections;
  • Having few, if any, side effects from medications and other treatments;
  • Feeling good about themselves and their treatment program.
Additional Information on PI
If you have been diagnosed with a PI disease, learn more about Living with PI.

Learn more about our PI Awareness Campaign and view or download posters, brochures, videos and other educational information on PI. Kids can visit our Kids Korner to learn more about PI.

Still have questions? Visit our FAQ section for valuable answers to your most frequently asked questions about PI, or get more information about Specific Defects. You may also want to view our Related Links to other websites involved with PI.

In addition, you or someone you know can access information and resources in English and Spanish through our toll-free hotline at 1-866-INFO-4-PI.

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