Primary Immunodeficiency

Immunodeficiency is when a part of the immune system does not work correctly. Genetic, or
inherited, immunodeficiencies are called primary immunodeficiencies, whereas secondary
immunodeficiencies are caused by environmental factors, such as use of certain medications or
poor nutrition. People with immunodeficiency tend to get sick more often with ear infections, sinus
infections, pneumonia, and skin infections. They also have longer infections that are hard to treat
with regular antibiotics and may result in hospitalization. Infants may have poor weight gain and
digestive problems like diarrhea.

WHAT CAUSES PRIMARY IMMUNODEFICIENCY?

Primary immunodeficiency is caused by pathogenic (disease-causing) variants in genes that help develop the immune system and keep it working. These variants may make it easier for germs to enter the body, make it more difficult for the body to identify germs, or make it so the body cannot “remember” how to fight off germs it has encountered before.

What does a genetic test check for?

Genetic testing checks the order of one’s DNA sequence (coded by the letters A, T, G, C) in specific genes linked
to genetic conditions. Letters that were added, missing, or changed, are known as variants and can sometimes be harmful to one’s health, increasing the risk for a genetic condition.
What are the potential results?

There are three possible results from genetic testing:
Positive
A pathogenic/likely pathogenic variant is detected in one’s DNA. This type of variant is known to increase one’s risk of a genetic condition. Identifying the specific gene involved can help confirm a diagnosis, inform screening and management, and reveal risk factors for an individual and/or their family.
Negative
No variation known to be associated with a genetic condition was detected in one’s DNA . While a result may
not show an increased risk for the condition(s) tested for, one can still be at risk for disease, especially if there is
a family history.
Variant of Uncertain Significance (VUS)
A variant was detected in one’s DNA, however, not enough information is known about this variant to
determine whether or not it is known cause the condition(s) tested for. More research is needed to better
understand this variant.
What about family members?

Children, siblings, and parents of individuals who have a variant(s) identified in genetic testing could carry the same
variant(s) and benefit from testing. Regardless of whether or not a variant was identified, individuals can still be at an
increased risk for a genetic condition, especially with a family history.

Do genetic test results affect health insurance or employment?

No, the Genetic Information Nondiscrimination Act (GINA) was signed into law in 2008.
It protects individuals from discrimination by an employer or a health insurance company based on genetic testing results and genetic information. GINA does not protect against life and disability insurance discrimination.
For more information on GINA, go to www.ginahelp.org.
Where can I learn more?

Medline Plus/Genetics Home Reference – medlineplus.gov/genetics/understanding
National Society of Genetic Counselors – nsgc.org

Primary Immunodeficiency

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Primary Immunodeficiency

What does a genetic test check for?

What are the potential results?

What about family members?

Do genetic test results affect health insurance or employment?

Where can I learn more?

Talk With Elite Clinical Laboratory

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