Rare Pulmonology News

5 Facts you should know about

Activated PI3K delta syndrome (APDS)



APDS, a Primary Immunodeficiency, was only characterized in 2013,

although it shares many features of other immune disorders - which means APDS patients may have been previously misdiagnosed with other conditions


Signs and symptoms of APDS start in childhood,

and patients are vulnerable to repeat infections and immune dysregulation such as severe respiratory tract infections, sinusitis, swollen lymph nodes, like tonsilitis and nodules in the airways


Recurrent respiratory infections

affect virtually all APDS patients


Bronchiectasis is a severe and common complication—

lung infections affect up to 60% of APDS1 patients


Genetic testing is the only way to definitively diagnose APDS

and other primary immunodeficiencies