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PI Diagnosis

Types and Causes of PI

Some of the more common types of primary immunodeficiency (PI) include selective IgA deficiency, common variable immune deficiency (CVID), X-linked agammaglobulinemia (XLA), and severe combined immunodeficiency (SCID).

PI is different from secondary immunodeficiency conditions, which are not hereditary but acquired, and autoimmune conditions, in which a person’s immune system attacks his or her own body. Rather, PI is usually inherited or caused by errors in the genes of the cells that make up the immune system.1

There’s relief with diagnosis.

Charlotte, diagnosed at age 38

How Common Is PI?

Primary immunodeficiency was once thought to be rare, but now it is considered more common. As PI awareness with physicians continues to grow, more people are getting diagnosed.2 In an Immune Deficiency Foundation survey, it was estimated that a quarter million people in the United States have been diagnosed with PI,3 and many more have not yet been diagnosed.4

Testing for PI

When testing for PI, doctors will ask about your family history and do a physical exam. They will order blood and skin tests to check if your red and white blood cells, antibodies, and immune system are working properly. These tests are important for your doctor to confirm a diagnosis of PI.5

If you have been diagnosed, these tests help determine which type of PI you may have. Once the tests are complete, and the PI diagnosis is confirmed, your doctor will recommend the best treatment options for your specific type of PI.

Early Diagnosis Is Important

If left untreated, the frequent infections caused by PI can lead to organ damage, such as lung damage or hearing loss.6 People whose PI is discovered later in life may already have some permanent organ damage from previous infections. Immunoglobulin (Ig) replacement treatment cannot reverse any existing damage, but proper treatment can reduce the number of infections.6

What Can I Do About PI?

If you have PI, there are medicines that can help. Keep reading to learn more about PI and your treatment options, and talk to your healthcare provider about what’s right for you.

References: 1. Blaese RM, Bonilla FA, Stiehm ER, Younger ME, eds. Patient & Family Handbook for Primary Immunodeficiency Diseases. 5th ed. Towson, MD: Immune Deficiency Foundation; 2013. 2. Joshi AY, Iyer VN, Hagan JB, St Sauver JL, Boyce TG. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clinic Proc. 2009;84(1):16-22. 3. Boyle JM, Buckley RH. Population prevalence on diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol. 2007;27(5):497-502. 4. Modell F, Puente D, Modell V. From genotype to phenotype. Further studies measuring the impact of a Physician Education and Public Awareness Campaign on early diagnosis and management of primary immunodeficiencies, Immunol Res. 2009;44(1-3):132-149. 5. National Institutes of Health. National Institute of Child Health and Human Development. Primary Immunodeficiency: When the Body’s Defenses Are Missing. Bethesda, MD: National Institutes of Health; 1999. NIH publication 99-4149. 6. Boyle ML, Scalchunes C. Impact of intravenous immunoglobulin (IVIG) treatment among patients with primary immunodeficiency diseases. Pharma Policy Law. 2008;10:133-146.


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