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An Introduction to Primary Immunodeficiency

Primary Immunodeficiency is an umbrella term for a group of more than 400 disorders that keep the body’s immune system from working how it should. Those with PI tend to get infections more often, take longer to recover from infections, and have more frequent infections. These conditions are typically inherited but can be caused by genetic or environmental factors as well. These disorders affect 1 in 1,200 people in the U.S. making it crucial to understand these disorders.

Symptoms:

Primary Immunodeficiency disorders can be diagnosed at any age, and the most common symptoms are infections that keep returning or are unusually hard to treat. The warning signs for children and adults vary but it is important to know what to look out for, the key with PI is early detection. Symptoms for adults include 2 or more ear or sinus infections within a year, recurring viral infections, recurring needs for antibiotics to clear infections, and a family history of PI. If you have more than two of these symptoms it’s important to discuss your concerns with your physician.

Diagnosis:

While susceptibility to infections is the most common symptom these can be easily misconstrued as people without PI can get sick often as well, making it tricky to diagnose. When there is a family history of PI, a potential diagnosis can be suspected before birth. However, because there is such a large variety of PI disorders lab tests and screenings are important for confirmation. These tests aid in seeing how the condition is passed on from one generation to the next. While it used to be thought that diagnosis was done in childhood life, we now understand that diagnosis can occur at any stage in life. When individuals have recurring infections and health issues this will typically trigger a doctor to perform a full clinical evaluation. Doctors will ask about family history and perform a physical exam with blood tests to evaluate your antibodies, blood cells, and immune system. These questions and tests are crucial to diagnosing primary immunodeficiency disorders.

There are over 400 types of primary immunodeficiency disorders but they all cause issues with the body’s immune system and the ability to fight off infection. Many PI disorders make it difficult for the body to produce antibodies, also called immunoglobulins which aid the body in fighting off infections from bacteria or viruses. Because there is such a wide variety of conditions and a large prevalence of these disorders in the US it is important to be aware of these conditions and understand the symptoms. If you do have a family history of PI or symptoms for these conditions it is important to speak with your doctor about your concerns. The key with PI disorders is catching them early to keep you as safe and healthy as possible

For more information regarding primary immunodeficiency disorders, check out these resources:

What is primary immunodeficiency (PI)?

Primary Immunodeficiency Awareness Month 2021

[Primary Immunodeficiency](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245434/#:~:text=Introduction,recognized [1%2C2].)

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