Rare Gastroenterology 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 inflammatory auto immune disorders, enteropathies, lymphadenopathy, and even lymphoma


Patients with APDS may seek care from gastroenterologists because of chronic enteritis


Overproduction of B and T cells has been shown to appear

as nodules in the airway or digestive tract for 24%-36% of people with APDS


Genetic testing is the only way to definitively diagnose APDS and other primary immunodeficiencies