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Chester County Press

About primary immunodeficiency diseases

09/02/2014 07:56PM ● By Lev

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 over 18 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. People with PI are more susceptible to infections and health problems that lead to serious and debilitating diseases.

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. 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.

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