The animated videos in NORD’s Rare Disease Video Library provide brief introductions to rare disease topics for patients, caregivers, students, professionals and the public. NORD collaborates with medical experts, patient organizations, videographers and Osmosis to develop the videos, which are made possible by individual donations, educational grants and corporate sponsorships. NORD is solely responsible for the content.
Summary
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare, inherited condition that affects the way the immune system works. The most common symptoms of APDS are frequent upper respiratory tract infections, sinus infections, ear infections, bronchitis and pneumonia (lung infection). Most people with APDS get their first infection in early childhood, but symptoms can begin at any age. Other symptoms include gastrointestinal irritation, lymph node swelling, enlarged liver and spleen and an increased risk for lymphoma. Over time, frequent ear and respiratory tract infections can lead to permanent hearing loss and scarring of the lungs (bronchiectasis).
There are two types of APDS: APDS1 is due to changes in the PIK3CD gene and APDS2 is due to changes in the PIK3R1 gene. Both have similar symptoms and are inherited in an autosomal dominant pattern in families. Treatment for APDS is focused on managing symptoms, preventing infections and lowering inflammation. It includes antibiotics to treat infections, anti-inflammatory drugs, immunoglobulin replacement and hematopoietic stem-cell transplant (HSCT).
Introduction
APDS was first described in 2013 and is one of the primary immunodeficiencies. People with a primary immunodeficiency are born with an immune system that doesn’t work correctly and get frequent infections that can be hard to treat. There are hundreds of primary immunodeficiencies, many with similar signs and symptoms. Specialized testing is often necessary to tell the primary immunodeficiencies apart and make a specific diagnosis.
