Other names: Activated Phosphoinositide 3-Kinase Delta Syndrome; APDS

Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) is a rare, primary immunodeficiency disease that was first recognized in 2013.

APDS is characterized by a variety of symptoms, including severe, recurrent sinopulmonary infections, lymphoproliferation, autoimmunity, and enteropathy.

APDS is caused by a mutation in either one of two identified genes known as PIK3CD or PIK3R1, which leads to hyperactivity of the PI3Kδ (phosphoinositide 3-kinase delta) pathway. This causes immune cells to fail to mature and function properly, leading to immunodeficiency and dysregulation.

Joenja (leniolisib) is the first treatment approved in the U.S. for APDS. It is an oral small molecule phosphoinositide 3-kinase delta (PI3Kẟ) inhibitor that works to inhibit the production of phosphatidylinositol-3-4-5-trisphosphate, which serves as an important cellular messenger and regulates a multitude of cell functions.

Drugs used to treat Activated PI3K-Delta Syndrome