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  • Writer's pictureNix Surban

Primary Immunodeficiency

Overview

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.

So far, researchers have identified more than 300 forms of primary immunodeficiency disorders. Some forms are so mild they can go unnoticed until adulthood. 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.


Symptoms

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 typical 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:

  • Frequent and recurrent pneumonia, bronchitis, sinus infections, ear infections, meningitis or skin infections

  • Inflammation and infection of internal organs

  • Blood disorders, such as low platelet count or anemia

  • Digestive problems, such as cramping, loss of appetite, nausea and diarrhea

  • Delayed growth and development

  • Autoimmune disorders, such as lupus, rheumatoid arthritis or type 1 diabetes

When to see a doctor

If you or your child has frequent, recurrent or severe infections or infections that don't respond to treatments, talk to your health care provider. Early diagnosis and treatment of primary immune deficiencies can prevent infections that can cause long-term problems.


Causes

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 these 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:

  • B cell (antibody) deficiencies

  • T cell deficiencies

  • Combination B and T cell deficiencies

  • Defective phagocytes

  • Complement deficiencies

  • Unknown (idiopathic)

Risk factors

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 primary immune deficiency disorder, you might want to seek genetic counseling if you plan to have a family.

Complications

Complications caused by a primary immunodeficiency disorder vary depending on what type you have. They can include:

  • Recurrent infections

  • Autoimmune disorders

  • Damage to the heart, lungs, nervous system or digestive tract

  • Slowed growth

  • Increased risk of cancer

  • Death from serious infection


Prevention

Because primary immune disorders are caused by genetic changes, there's no way to prevent them. But when you or your child has a weakened immune system, you can take steps to prevent infections:

  • Practice good hygiene. Wash your hands with mild soap after using the toilet and before eating.

  • Take care of your teeth. Brush your teeth at least twice a day.

  • Eat right. A healthy, balanced diet can help prevent infections.

  • Be physically active. Staying fit is important to your overall health. Ask your doctor what activities are appropriate for you.

  • Get enough sleep. Try to go to sleep and get up at the same time daily, and get the same number of hours of sleep every night.

  • Manage stress. Some studies suggest that stress can hamper your immune system. Keep stress in check with massage, meditation, yoga, biofeedback or hobbies. Find what works for you.

  • Avoid exposure. Stay away from people with colds or other infections and avoid crowds.

  • Ask your doctor about vaccinations. Find out which ones you should have.





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