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Activated PI3K delta syndrome (APDS)

Activated PI3K delta syndrome (APDS) is a rare primary immunodeficiency (PI) that is often misdiagnosed as CVID or another antibody deficiency.


About APDS

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 and their frequency, and share this information with your doctor. 

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

Common 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, and 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


Find APDS clinical trials

See if you qualify to participate in clinical trials evaluating new treatments and/or diagnostics for APDS.


Genetic testing is the only way to definitively diagnose APDS. Since 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 variant and pass it on to their children. 

Man swabs his cheek for a genetic test.

Products approved to treat APDS in the U.S.


(Manufacturer: Pharming )

Approved to treat: Activated PI3K delta syndrome (APDS)
Ages: 12+

Report side effects/adverse events at or +1-800-930-5221.


This informational website for those affected by activated P13K delta syndrome (APDS) was developed by Pharming Healthcare, Inc. and intended for residents of the United States. 

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.