Primary immunodeficiency disorders — also called primary immune disorders or primary immunodeficiency — weaken the immune system, allowing infections and other health problems to occur more easily.
Many people with primary immunodeficiency are born missing some of the body's immune defenses or with the immune system not working properly, which leaves them more susceptible to germs that can cause infections.
Some forms of primary immunodeficiency are so mild they can go unnoticed for years. Other types are severe enough that they're discovered soon after an affected baby is born.
Treatments can boost the immune system in many types of primary immunodeficiency disorders. Research is ongoing, leading to improved treatments and enhanced quality of life for people with the condition.
One of the most common signs of primary immunodeficiency is having infections that are more frequent, longer lasting or harder to treat than are the infections of someone with a normal immune system. You may also get infections that a person with a healthy immune system likely wouldn't get (opportunistic infections).
Signs and symptoms differ depending on the type of primary immunodeficiency disorder, and they vary from person to person.
Signs and symptoms of primary immunodeficiency can include:
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Frequent and recurrent pneumonia, bronchitis, sinus infections, ear infections, meningitis or skin infections
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Inflammation and infection of internal organs
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Blood disorders, such as low platelet counts or anemia
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Digestive problems, such as cramping, loss of appetite, nausea and diarrhea
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Delayed growth and development
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Autoimmune disorders, such as lupus, rheumatoid arthritis or type 1 diabetes
Many primary immunodeficiency disorders are inherited — passed down from one or both parents. Problems in the genetic code that acts as a blueprint for producing the cells of the body (DNA) cause many of the immune system defects.
There are more than 300 types of primary immunodeficiency disorders, and researchers continue to identify more. They can be broadly classified into six groups based on the part of the immune system that's affected:
The only known risk factor is having a family history of a primary immune deficiency disorder, which increases your risk of having the condition.
If you have a type of the condition, you might want to seek genetic counseling if you plan to have a family.
Complications caused by a primary immunodeficiency disorder vary, depending on what type you have. They can include:
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Recurrent infections
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Autoimmune disorders
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Damage to heart, lungs, nervous system or digestive tract
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Slowed growth
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Increased risk of cancer
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Death from serious infection
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