Primary immunodeficiency — also called primary immunodeficiency disease and primary immunodeficiency disorder (PIDD) — refers to a group of disorders that prevent your immune system from working correctly. Without a well-functioning immune system, you’re more likely to get and become sick from infections. PIDDs are inherited and vary in severity.
Primary immunodeficiency refers to a group of more than 400 disorders that affect your immune system. These disorders prevent your immune system from functioning properly. This can make you more susceptible to infection and certain diseases, including autoimmune diseases and cancers. Other names for primary immunodeficiency include:
Genetic mutations (changes) cause primary immunodeficiency. They’re usually inherited, or passed down, within families, but can sometimes pop up sporadically. Providers treat primary immunodeficiency by preventing and managing infections and replacing missing or defective immune system components.
There are more than 400 types of primary immunodeficiency. These types vary in severity, which affects the age of onset (when they develop). Some types of PIDD cause problems during infancy and are discovered shortly after a baby is born. Other types are mild, and you may not receive a diagnosis until adulthood. Examples of primary immunodeficiency include:
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Having repeated, persistent or unusual infections that are difficult to treat are often the first signs of primary immunodeficiency for many people. They may be severe infections and/or shared with other family members. Other primary immunodeficiency symptoms may include:
Primary immunodeficiency results from genetic mutations affecting one or several components of your immune system, including cells and proteins. These mutations may cause parts of your immune system to be:
In 50% to 60% of cases, primary immunodeficiency relates to defects in B lymphocytes (B cells). These immune system cells make antibodies, specific proteins in your body. Your immune system uses antibodies to destroy pathogens (disease-causing agents) like bacteria or viruses.
Anyone can develop PIDD, but if you have a biological family history of the condition, you’re more likely to be affected. People usually develop primary immunodeficiencies before they’re 20 years old. Primary immunodeficiency is more common in people assigned male at birth (AMAB) than people assigned female at birth (AFAB).
Primary immunodeficiency may increase your risk for developing complications later in life. You might develop an autoimmune disorder or certain types of cancer. PIDD may result in unusually severe infections if it’s not treated.
Your healthcare provider will diagnose PIDD based on your personal and family medical history, a physical examination and laboratory testing.
To confirm your diagnosis, your provider may order tests that include:
In addition, all U.S. states include testing for a type of PIDD called severe combined immunodeficiency (SCID) as part of newborn screening.
If you’ve received a primary immunodeficiency diagnosis, your treatment goals will include managing current infections and preventing future infections. Your exact primary immunodeficiency treatment depends on the type of infection.
Your healthcare provider may prescribe medications, including:
Occasionally, people need surgery to manage complications from infections. For instance, a surgeon can drain an abscess to relieve discomfort and help you heal. An abscess is a collection of pus that forms inside body tissues or organs. Pus is made of dead white blood cells leftover from your body fighting an infection.
In some cases, your provider may recommend stem cell transplantation to replace defective or absent immune system components. During a stem cell transplant, your provider uses stem cells (cells that can turn into other kinds of cells) from a donor and transfers them into your body. These stem cells eventually become typical immune system cells.
Gene therapy has also been a successful treatment option for specific types of PIDD.
Genetic mutations cause most PIDD disorders, so there’s no way to prevent them. If primary immunodeficiency runs in your family, you may want to consider genetic counseling.
With treatment, most people with PIDD live healthy lives. In some cases, you’ll have to take medication for the rest of your life. You should also try to avoid infection. Some tips for doing this include:
If you have an infection that doesn’t go away, is unusually severe or keeps coming back, contact your healthcare provider for an evaluation to determine if you have PIDD. If you know you have PIDD, contact your provider immediately if you have a fever or infection. This is necessary to prevent complications.
A note from Cleveland Clinic
The conditions associated with primary immunodeficiency can be challenging to live with. Having repeated, persistent or unusual infections that are difficult to treat can be debilitating and can take a great toll on your sense of well-being. But you don’t have to go through it alone. Ask your healthcare provider to help you find a support group. Sharing stories and tips with others experiencing primary immunodeficiency may help.
Last reviewed by a Cleveland Clinic medical professional on 09/05/2023.
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