Primary Immunodeficiency Disorders (Inborn Errors of Immunity)

What Are Primary Immunodeficiency Disorders?

These disorders weaken the immune system, the body’s defense mechanism, meaning that infections and other health issues are more likely.

What Causes Primary Immunodeficiency Disorders?

Many of these more than 400 disorders stem from the way in which your child’s body uses genes that are inherited from one or both parents.

What Are the Signs and Symptoms of Primary Immune Disorder?

The most prominent sign of a primary immunodeficiency disorder is having frequent or longer-lasting infections.



Signs and symptoms can include:

• Repeated bouts of pneumonia, bronchitis, sinus infections, ear infections, meningitis, or skin infections
• Inflammation/infection of organs
• Digestive problems, such as poor appetite, belly pain, and diarrhea
• Failure to thrive, poor weight gain
• Autoimmune disorders affecting blood cells or endocrine tissues such as the thyroid and pituitary
• Blood problems such as low platelet counts or anemia

How Is Immune Deficiency Diagnosed?

Laboratory tests can detect problems with making antibodies, or affecting the function of white blood cells.

What Can I Do About Immune Deficiency?

If your child has a primary immune disorder, it’s important to do all you can to protect him or her from infection. This includes:  

• Ensuring that the child follows recommended treatments
• Where appropriate, getting recommended immunizations
• Steering clear of family and friends who have colds or the flu and avoiding large gatherings as much as possible
• General health measures including a healthful diet, food and personal hygiene, and tooth brushing twice daily.

Your doctor can advise you of other strategies to help keep your child well.

What Treatment Is Available for Immunodeficiency Disorders (Immune Deficiency)?

There are three facets of treatment for patients who have primary immunodeficiency: preventing and managing infections; reinforcing the immune system through immunoglobulin replacement, antibiotics, growth factor treatments; and treatments that address the underlying cause, such as gene therapy and bone marrow transplantation.

Ongoing research is leading to improved treatments.

Secondary Immunodeficiency Disorders

The immune system can be weakened by external events such as infections or certain drug treatments, and disorders affecting nutrition and digestion. Secondary immunodeficiencies are much more common that the primary immunodeficiencies. They can affect vaccinations as well as overall health, and can influence treatment planning.

More Information on Primary Immunodeficiency

• The National Institutes of Health Diseases, Genetic and Rare Diseases (GARD) Information Center
• The Jeffrey Modell Foundation
• The Immune Deficiency Foundation

Learn about treatment at Lifespan for more pediatric asthma and allergy conditions