All about APDS

Activated PI3Kδ syndrome (APDS; sometimes referred-to as p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency or PASLI ) is a recently described form of inborn error of immunity (IEI) that is characterised by a hyperactive PI3Kδ due to heterozygous mutations in PIK3CD or PIK3R1 genes.¹ APDS presents with a variety of clinical manifestations such as recurrent sinopulmonary infections, non-neoplastic lymphoproliferation, and herpesvirus infections.^2,3 Other significant complications related to immune dysregulation include lymphoproliferation, cytopenia, arthritis, inflammatory bowel disease, and lymphoma.^2,3 Patients can wait a significant time without a diagnosis or are often incompletely diagnosed, as PID, CVID or CID patients.¹ Untreated APDS may be associated with significantly increased morbidity and mortality,^2-4 adversely affecting quality of life and may be life-threatening in some patients.

Genetic testing is the only way to confirm a diagnosis of APDS, and family testing is recommended to ensure early/accurate diagnosis and targeted treatment.

APD-INT-2022-0039    Date of preparation: July 2022