Primary immunodeficiency diseases (PIDD) are a group of genetic diseases in which the immune system’s ability to fight off infection is greatly reduced or absent. These problems lead to an increased susceptibility to infection. There are more than 150 different types of PIDD.

According to the Immune Deficiency Foundation (IDF) there are approximately 250,000 people diagnosed with primary immunodeficiency diseases in the United States. Thousands more go undetected. PIDD can strike people at all ages, though symptoms often begin to present early in life.

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

Primary immunodeficiency diseases can go undetected because, although frequent in occurrence, the illnesses associated with PIDD are not unique. You should be suspicious if you have an infection:

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1. Eight or more ear infections in one year

2. Two or more serious sinus infections in one year

3. Two or more months on antibiotics with little effect

4. Two or more pneumonias within one year

5. Failure of an infant to gain weight or grow normally

6. Recurrent, deep skin or organ abscesses

7. Persistent thrush in mouth or elsewhere on skin, after age 1

8. Need for intravenous antibiotics to clear infections

9. Two or more deep-seated infections

10. A family history of Primary Immunodeficiency

In adults there can be additional indications:

1. Chronic diarrhea with weight loss

2. Recurrent vial infections (colds, herpes, warts, condyloma)

3. Persistent thrush or fungal infection of the skin or internal organs

4. Infection with normally harmless tuberculosis-like bacteria

If any of these describe your infection, ask your physician to check for the possibility of a primary immunodeficiency disease.

People with primary immunodeficiencies 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.

Immunoglobulin replacement therapy is the primary treatment for PIDD. In a recent IDF survey it is estimated that 70 percent of those diagnosed with PIDD reported that they are being treated with immunoglobulin.

For more information contact the Immune Deficiency Foundation at 800.296.4433 or visit www.primaryimmune.org.

Rhode Island also has a local support group that can be found on the IDF website