Approach to Identification of Patients with Activated Phosphoinositide-3 Kinase Delta Syndrome (APDS)

APDS is a rare genetically defined Primary Immune Regulatory Disorder (PIRD) with symptoms that can vary widely among patients and appear similar to other PIRDs and certain Inborn Errors of immunity (IEI), therefore, the only way to obtain a definitive diagnosis is through a genetic testing. To improve the odds to identify such patients we have developed an APDS screening Score Card to select candidate patients for genetic efaluation.