Intended for U.S.Find an Immunologist
Visit the American Academy of Allergy, Asthma, and Immunology (AAAAI) Physician Referral Directory or the Jeffrey Modell Foundation (JMF). Find an Expert Immunologist.
Learn MoreIf you have symptoms of primary immune deficiency (PI), your doctor may recommend testing to help diagnose your condition. Here are some things you might want to ask your doctor:
- What tests are needed?
- How many blood draws can I (or my child) expect for the full evaluation?
- When do you expect these tests to be completed?
- Will my insurance cover the costs for all tests? If not, how much can I expect to pay out-of-pocket for these tests?
- Will I (or my child) need additional vaccinations? If so, what are they for?
- If I get sick (or my child gets sick) while waiting for a diagnosis, should I call you or my primary doctor?
- Should I be altering anything in my child’s life as we go through the diagnostic process?
To diagnose PI, doctors generally:1
- Ask about the patient’s and family’s history
- Do a physical examination
- Order blood tests to check blood cell counts and function, antibody levels (quantitative immunoglobulin levels for IgG, IgA, and IgM), antibody levels to previously received vaccines (vaccine titers against tetanus and pneumococcal vaccines)
- Perform radiographic imaging (chest x-rays, CT scans of sinuses/lungs), skin testing against infectious agents, tests for the complement system, and other advanced testing for immune cell subsets
Treating PI
Learn about intravenous (IV) immunoglobulins for primary immunodeficiency (PI).
Learn MoreTesting for PI
Testing is usually done in stages. Because there are more than 150 different types of PI,2 the protocol your doctor uses may be different. You can find out more about the diagnosis of specific primary immunodeficiencies, such as Common Variable Immune Deficiency (CVID), Selective IgA Deficiency, X-Linked Agammaglobulinemia (XLA), and Wiskott-Aldrich Syndrome (WAS), in our section on types of PI. If you would like to learn more, the Jeffrey Modell Foundation offers a list of the 4 Stages of Testing for Primary Immunodeficiency.
Learn about therapy options for primary immune deficiency.
- Jeffrey Modell Foundation Advisory Board. 4 Stages of Testing for Primary Immunodeficiency. Jeffrey Modell Foundation website. 2008. Available at http://www.info4pi.org/aboutPI/index.cfm?section=aboutPI&content=algorithm. Accessed January 18, 2010.
- Geha R, Notarangelo L, Casanova JL, Conley ME, Chapel ME, Fischer A, Hammerstrom L, Nonoyama S, Ochs H, Puck J, Roifman C, Seger R, Wedgwood J. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting. Journal of Allergy and Clinical Immunology 2007; 120(4):776-794.
