About primary immunodeficiency diseases
09/02/2014 07:56PM ● By LevWho 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.