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Could it be APDS?

APDS is often misdiagnosed, commonly with CVID or other PIs.

Activated PI3K Delta Syndrome (APDS) is a rare primary immunodeficiency (PI) that was first discovered in 2013. It is caused by genetic variants in either one of two identified genes known as PIK3CD or PIK3R1, which are vital to the development and function of immune cells in the body.

Distinguishing between PIs is often difficult because of the wide variety of symptoms that patients suffer. So it is vital that you take note of your symptoms, their frequency, and share this information with your doctor. 

Making a correct PI diagnosis is crucial and can change the course of treatment and outcome for patients.

Most Common APDS 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. Common APDS symptoms include:

Ear, Sinus & Respiratory Tract Infections

Chronic Cough

Enlarged Tonsils, Lymph Nodes, or Spleen

Nodules in the Airway or Digestive Tract

Herpes Infections

Gastrointestinal (Digestive) Tract Issues

Autoimmune and Autoinflammatory Disorders

Low Numbers of Blood Cells

Developmental Delay


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Have you confirmed your PI with genetic testing?

Genetic testing is the only way to definitively diagnose APDS and many other PIs.

  • Before patients are correctly diagnosed with APDS, they often have a lengthy delay in diagnosis involving multiple visits to various specialists.
  • The goal of a quick diagnosis and treatment is to interrupt disease progression to permanent damage or malignancy.
  • As PIs 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. 
  • Stop the never-ending swirl of doctor visits and specialist appointments as you look for answers. Talk with your doctor about getting a no-charge genetic test from the navigateAPDS program. 




Family members of a patient with APDS should explore genetic testing


Videos to Watch

Video: A Doctor's Perspective
Dr Nicholas Hartog discusses the importance
of genetic testing.
Video: The Diagnosis Journey
Dr Eveline Wu talks through the patient
journey to a diagnosis.


Learn more about APDS
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Thank you to Pharming Healthcare, Inc. for their support of this page:

APD-US-2021-0034 / APD-US-2021-0035