Primary Immunodeficiency Awareness Month

Your immune system helps your body fight infections. People with primary immunodeficiency (PI) have an immune system that does not work correctly. This means that people with PI are more likely to get and become severely ill from infections.

There are more than 400 types of PI that vary in severity, which affects how early they are detected. In some cases, a person with a mild form may not find out that they have PI until adulthood. In other cases, the disorder causes problems in infancy and is found soon after birth. All states include testing for one type of PI called severe combined immunodeficiency (SCID) as part of newborn screening. Treatments can help the immune system work better. Which treatment works best depends on the type of PI a person has.

Signs of PI include

People with PI are more likely to have autoimmune disordersexternal icon and certain blood disorders. Because your immune system protects your body against cancer, people with PI are more likely to have certain cancers. In some cases, PI is due to a genetic disorder that involves other health problems, such as 22q11.2 deletion syndrome  (also called DiGeorge syndrome)external icon.

PI often has an underlying genetic cause and can run in families. Sharing your family history of PI with your doctor can be important for your and your children’s health or if you are pregnant or planning a pregnancy. Your doctor may refer you for genetic counseling.

Early diagnosis can help prevent or delay some of the health problems caused by PI. Left untreated, some types of PI can result in serious health problems, including organ damage, and even death. Even with treatment, most PI do not have a cure. Taking steps to prevent infection is very important if you have PI. These steps include

  • Washing your hands the right way
  • Taking good care of your teeth
  • Maintaining healthy habits, including being physically active, eating healthy, and getting enough sleep
  • Avoiding exposure to people who are sick and crowds
  • Asking your doctor which vaccinations are safe for you. In some cases, people with PI cannot have live vaccines such as rotavirus, chickenpox, oral polio, and measles, mumps, rubella. Newborn screening for SCID can find babies with this PI early, before they receive these vaccines.

Treatments vary, depending on the type of PI, and can include

Talk to your doctor if you think that you or your child has signs of PI. Your doctor might refer you or your child to a clinical immunologist, a doctor who specializes in the immune system. You can use the American Academy of Allergy, Asthma, and Immunology’s Find an Allergist/Immunologist toolexternal icon to find a doctor near you. If you have been diagnosed with PI, your doctor might refer you for genetic counseling and testing. Some types of PI run in families, so be sure to share information about your diagnosis with your family members.

More Information

Reference:

https://www.cdc.gov/genomics/disease/primary_immunodeficiency.htm

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