US Health Professionals

Primary Immunodeficiency

Understanding Primary Immunodeficiency

Primary Immunodeficiencies (PI) are diseases in which the immune system is missing or doesn’t function properly, often leading to increased infections and other immune symptoms. Primary means it’s genetic, so the immune impairments are present from birth and they can affect anyone, regardless of age or gender. There are over 450 PIs and they are reported to occur in about one out of every 1,200 people.

Typical APDS Symptoms

APDS – Activated PI3K Delta Syndrome is a rare progressive PI. APDS can be difficult to diagnose, and the reported median diagnostic delay is seven years. Distinguishing between PIs can be difficult because many share common symptoms.

CVID or APDS?

Common variable immune deficiency (CVID) is one of the most frequently diagnosed primary immunodeficiencies.

APDS and CVID share common symptoms. People with CVID and APDS can have frequent infections that usually occur in the ears, sinuses, nose and lungs.

People with APDS can also have lymphadenopathy; immune cells build up in certain areas of the body, making them appear enlarged or swollen.

Patients that have a CVID diagnosis and experience lymphadenopathy or some of the other symptoms outlined below may benefit from a genetic test.

ALPS or APDS?

APDS can also resemble autoimmune lymphoproliferative syndrome (ALPS).

Conditions such as anemia, lymphadenopathy and lymphoma are common manifestations of both ALPS and APDS.

A genetic test can definitively diagnose APDS.

A Genetic Diagnosis Can Change Disease Management.

Having an accurate diagnosis is crucial and can alter disease management and outcomes.

It is vital that you take note of your symptoms, their frequency and share this information with your doctor. A genetic test should be considered in people experiencing two or more of the symptoms outlined below.

If you would like to know more about APDS sign up to receive more information.

Most Common APDS Signs & Symptoms

The most common, and often earliest reported APDS symptoms include frequent and severe infections of the ears, sinuses, and upper and lower respiratory tracts which begin in infancy.

Common APDS signs & symptoms include:

Ear, Sinus, and Respiratory Tract Infections

96-100% of reported cases

Enlarged Tonsils, Lymph Nodes, or Spleen

71-89% of reported cases

Chronic Cough

51% of reported cases

Gastrointestinal (Digestive Tract) Issues

51% of reported cases

Herpes Infections

36-49% of reported cases

Autoimmune and Autoinflammatory Disorders

~30% of reported cases

Low Numbers of Blood Cells

~30% of reported cases

Developmental Delay

10-31% of reported cases

Lymphoma

12-25% of reported cases

If you suffer from any two or more of the above symptoms, consider APDS.
Lymphoma under the age of 26 should raise suspicion of APDS.

Has Your PI Been Confirmed With Genetic Testing?

Genetic testing can definitively diagnose APDS and many other PIs.

  • Before patients are correctly diagnosed with APDS, they often have a lengthy wait for a diagnosis involving multiple visits to various specialists. Symptoms are treated without identifying the underlying cause.
  • The goal of a quick diagnosis and treatment is to interrupt disease progression to permanent damage or malignancy.
  • As primary immunodeficiencies are inherited, family members of a confirmed patient should be genetically tested. While family members may not have the same symptoms or any symptoms, they may still carry the genetic condition and pass it onto their biological children.
  • If you have been going to multiple doctors and not getting answers to your
    condition, consider genetic testing. Talk with your doctor about whether you are eligible for the navigateAPDS* sponsored genetic test.

Every year new genetic variants are picked up by the latest genetic tests.

Five years ago we had only identified 200 genes associated with PI, and by 2019 we had identified 450.

If you have had a genetic test for a PI such as APDS in the past, speak to your doctor to see if retesting is appropriate for you.

Download this information sheet about our no-charge genetic testing program to share with your doctor.

*This program is currently available in the US and Canada only. Eligibility requirements apply.

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