About the Immune Deficiency Foundation

Founded in 1980, the Immune Deficiency Foundation (IDF) is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with Did you knowprimary immunodeficiency diseases through advocacy, education and research. Primary immunodeficiency diseases (PI) are a group of more than 300 rare, chronic genetic disorders in which part of the body’s immune system is missing or functions improperly. There are approximately 250,000 people who are diagnosed with PI in the U.S., and thousands more go undetected.

Have you heard of David Vetter, affectionately known as ‘the boy in the bubble’? David had one of the most severe types of PI. Today, there are therapies that do not involve living in a bubble. With early diagnosis, these therapies can be very effective, allowing many people with PI to live healthy lives.

However, individuals affected by PI often find it difficult to receive proper diagnosis, treatment and specialized healthcare. Patients also experience difficulties financing their healthcare, finding educational materials on the disease and locating others with whom to share their experiences. IDF helps individuals overcome these difficulties. IDF provides accurate and timely information for patients and families living with PI and offers valuable resources. IDF…

Thousands of individuals and families affected by PI depend on IDF for advocacy, education and empowerment.

IDF does not charge patients or healthcare professionals for the educational materials or local programming that it provides. This is possible because of the generosity of the donors and sponsors who make unrestricted gifts to IDF.

For more information, visit www.primaryimmune.org.

About Primary Immunodeficiency Diseases (PI)                                                                

Who does PI affect?

There are approximately 250,000 people diagnosed with PI in the U.S. Thousands more go undetected. Although some disorders present at birth or in early childhood, the Is it Just an Infectiondisorders can affect anyone, regardless of age or gender. The disorders are not contagious. They are genetic.

Is PI an autoimmune disease?

No, PI is not an autoimmune disease, which is when the immune system attacks the body in which it resides. An individual with PI is born with an immune system that is either missing or functioning improperly, not attacking itself. (Although some patients with PI may have an autoimmune disorder in addition to their PI.)

How is PI diagnosed?

Medical and family history, physical exam, blood and immunoglobulin level tests and vaccines to test the immune response may be included in the diagnosis process. IDF estimates that the average length of time between onset of symptoms and diagnosis is between nine and 15 years. Fifty percent of those patients are 18+ years of age when diagnosed.

What are the symptoms of PI?

You should be suspicious if you have an infection that is: Severe – requires hospitalization or intravenous antibiotics; Persistent – won’t completely clear up or clears slowly; Unusual – caused by an uncommon organism; Recurrent – keeps coming back; or Runs in the Family – others in your family have a similar susceptibility to infection.

If any of these describe your infection, ask your physician to check for the possibility of a PI. People with PI are more susceptible to infections and health problems that lead to serious and debilitating diseases. It is critical to get an early diagnosis and proper medical care.

What type of research does IDF support?

IDF supports and participates in research to help better define the patient experience. IDF also conducts regular surveys of patients and physicians, and provides electronic resources that enable patients to better track their health and communicate with healthcare providers. Through a federal grant, IDF administers the United States Immunodeficiency Network (USIDNET), the only patient-consented registry for PI in the U.S.

How is PI treated?

This depends on the type of PI. Immunoglobulin (Ig) replacement therapy is the primary treatment for patients with antibody deficiencies. In a recent IDF survey, it is estimated that 70% of those diagnosed with PI reported that they are being treated with Ig. For some of the more severe PI disorders, bone marrow transplantation is an important treatment, and gene therapy is used experimentally. Gamma interferon is often used to treat Chronic Granulomatous Disease (CGD), a type of PI. Patients with PI are treated with antibiotics as well. Products sold as “immune boosters” have no proven effect.

Is PI Curable?

Most types of PI are not curable. However some of the most severe types may be treated and cured with a bone marrow transplant or experimental gene therapy. Transient Hypogammaglobulinemia of Infancy, a type of PI, can be outgrown. However, in most cases, PI is a lifelong condition.

Why the Zebra?

In medical school, many doctors learn the saying, “when you hear hoof beats, think horses, not zebras,” and are taught to focus on the likeliest possibilities when making a diagnosis, not the unusual ones. However, sometimes physicians need to look for a zebra. Patients with primary immunodeficiency diseases (PI) are the zebras of the medical world. 

In the U.S., approximately 250,000 people are diagnosed with PI, and thousands more go undetected. IDF asks you to spread the word, THINK ZEBRA! and help promote awareness of PI.

For more information, contact IDF at 800-296-4433 or www.primaryimmune.org.

About the Immune Deficiency Foundation
Founded in 1980, the Immune Deficiency Foundation (IDF) is the voice of the primary immunodeficiency community. Primary immunodeficiency diseases (PI) are a group of more than 200 rare, chronic genetic disorders in which part of the body’s immune system is missing or functions improperly. People with PI can face frequent health problems and often develop serious and debilitatingIDF booklet image illnesses. IDF advocates for this rare disease community and provides the educational resources for patients to take control of their health and well-being.

Have you heard of David Vetter, the ‘boy in the bubble’? David had one of the most severe types of PI. Today, there are therapies that don’t involve living in a bubble, and, with early diagnosis, these therapies can be very effective, allowing many people with PI to live healthy lives.

FAQ about Primary Immunodeficiency Diseases (PI)                                                                                                                                  

Who does PI affect?
There are approximately 250,000 people diagnosed with PI in the U.S. Thousands more go undetected. Although some disorders present at birth or in early childhood, the disorders can affect anyone, regardless of age or gender. The disorders are not contagious. They are genetic.

Is PI an autoimmune disease?
No, PI is not an autoimmune disease, which is when the immune system attacks the body in which it resides. An individual with PI is born with an immune system that is either missing or functioning improperly, not attacking itself. (Although some patients with PI may have an autoimmune disorder in addition to their PI.)

How is PI diagnosed?
Medical and family history, physical exam, blood and immunoglobulin level tests and vaccines to test the immune response may be included in the diagnosis process. IDF estimates that the average length of time between onset of symptoms and diagnosis is between nine and 15 years. Fifty percent of those patients are 18+ years of age when diagnosed.

What are the symptoms of PI?
You should be suspicious if you have an infection that is: Severe – requires hospitalization or intravenous antibiotics; Persistent – won’t completely clear up or clears slowly; Unusual – caused by an uncommon organism; Recurrent – keeps coming back; or Runs in the Family – others in your family have a similar susceptibility to infection

If any of these describe your infection, ask your physician to check for the possibility of a PI. People with PI are more susceptible to infections and health problems that lead to serious and debilitating diseases. It is critical to get an early diagnosis and proper medical care.

What type of research does IDF support?
IDF supports and participates in research to help better define the patient experience. IDF also conducts regular surveys of patients and physicians, and provides electronic resources that enable patients to better track their health and communicate with healthcare providers. Through a federal grant, IDF administers the United States Immunodeficiency Network (USIDNET), the only patient-consented registry for PI in the U.S.

How is PI treated?
This depends on the PI. Immunoglobulin (Ig) replacement therapy is the primary treatment for antibody deficient patients. In a recent IDF survey, it is estimated that 70 percent of those diagnosed with PI reported that they are being treated with immunoglobulin. For some of the more severe PI disorders, bone marrow transplantation is an important treatment, and gene therapy is used experimentally. Gamma interferon is used to treat Chronic Granulomatous Disease (CGD), a type of PI. Patients with PI are treated with antibiotics as well. Products sold as “immune boosters” have no proven effect.

Is PI Curable?
Most types of PI are not curable. However some of the most severe types may be treated and cured with a bone marrow transplant or experimental gene therapy. Transient Hypogammaglobulinemia of Infancy, a type of PI, can be outgrown. However, in most cases, PI is a lifelong condition.

Why the Zebra?
In medical school, many doctors learn the saying, “when you hear hoof beats, think horses, not zebras,” and are taught to focus on the likeliest possibilities when making a diagnosis, not the unusual ones. However, sometimes physicians need to look for a zebra. Patients with primary immunodeficiency diseases (PI) are the zebras of the medical world.

In the United States, approximately 250,000 people are diagnosed with PI, and thousands more go undetected. IDF asks you to spread the word and THINK ZEBRA! and help promote awareness of PI.

For more information, contact IDF at 800-296-4433 or visit www.primaryimmune.org

- See more at: http://idf.convio.net/site/TR?fr_id=1051&pg=informational&sid=1025#sthash.VimH6aeO.dpuf