Treatment and Management of Immune Deficiency Diseases
How is an immune deficiency diagnosed?
The first step in diagnosing an immune deficiency is a good evaluation. If your doctor suspects that your immune system is not working properly, or if you are frequently sick, you may be referred to an immunologist (immune system specialist who is also an allergist by training). An immunologist will then help with your diagnosis and treatment.
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 immune deficiency. Because some immune deficiencies run in families, you will be asked questions about your family’s health. You will also have a complete check-up.
Learn more about how to be best prepared for your next doctor's appointment.
If an immune deficiency is suspected, a series of blood tests and vaccines may be done.
- Blood tests will show if any part of the immune system is missing or not working properly. For example, blood tests will reveal if there are any cells lacking from a complete immune system or if the cells are present but lack adequate amounts for the system to function effectively.
- Vaccines may be given to test the immune system’s response. In the normal immune system, anti-bodies against the organisms in the vaccine are formed in the blood. If antibodies to the vaccine are not found a few weeks after the vaccine is given, an immune deficiency may exist. A lack of specific antibodies demonstrates an inability to produce and maintain an effective defense against infection. Antibodies are highly sensitive "scout" molecules that fight infection.
The physician may order additional tests to confirm the diagnosis.
What are the goals of treatment?
At National Jewish, doctors believe people with an immune deficiency can lead active and full lives. Our goal is to help people regain or maintain control of their lives. Common goals for people with an immune deficiency include:
- 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.
Your doctor may prescribe medications or other treatments to make you feel better and to protect you from foreign invaders. Medications and treatments must be chosen for your individual needs. They may need to be adjusted when your needs change. Medications and treatments for immune deficiencies include:
- antibiotics to fight and prevent infection;
- antibody (IVIG) replacement;
- and other treatments (e.g. interferon).
How are antibiotics used in treatment?
Antibiotics are medications that fight infection. They are used when signs of infection are present. Your doctor may take a sample of secretions from the infected area to determine what antibiotic is the best choice. Antibiotics may also be used to prevent infection. Talk with your doctor about the possible side effects of antibiotics.
What is antibody replacement?
Individuals who are unable to produce adequate amounts of immunoglobulins or antibodies may benefit from replacement therapy with intravenous gammaglobulin.
Specific immune deficiencies that may benefit from antibody replacement may include:
- Agammaglobulinemia;
- common variable immunodeficiency;
- Wiskott-Aldrich syndrome;
- B-cell chronic lymphocytic leukemia;
- bone marrow transplant;
- and human immunodeficiency virus (HIV is the virus that causes AIDS).
Antibody replacement with gamma globulin replaces IgG in the blood. Gamma globulin given through a needle into a vein is called intravenous immune globulin (IVIG). This treatment is used for several types of immune deficiencies and helps the body fight infection.
Gamma globulin is made of antibodies from the blood of healthy people. Antibodies from at least 1,000 donors in each treatment provide protection against a wide variety of foreign invaders. The blood is carefully tested, and discarded if there is evidence of contagious diseases such as hepatitis or HIV. Talk with your doctor if you have any questions or concerns.
Because IVIG does not contain IgA or IgM, their protective functions are not replaced. People with immune deficiencies may continue to have trouble with respiratory infections. However, treatment with IVIG and early treatment of infections help many people with immune deficiencies lead active and full lives.
Are there other treatments for immune deficiency?
Other treatments are available for some types of immune deficiencies. Bone marrow transplants and gamma interferon are examples of these other treatments. Researchers in immunology are experimenting with gene therapy and other treatments that will be available in the future.
This information has been approved by Rafeul Alam, MD (April 2008).
