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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.
What is APDS?
The phosphatidylinositol 3-kinases are a family of lipid kinases that are activated by a variety of cellsurface receptors to regulate a wide range of downstream targets that affect cellular metabolism,
growth, survival, differentiation, adhesion and migration…
APDS symptoms are caused by hyperactive PI3Kδ signalling due to specific mutations in either PIK3CD or PIK3R1...
Genetic testing is the only way to confirm the diagnosis of APDS. As there is a 50% of chance of APDS being passed from parent to child, family members of patients with APDS should also be genetically tested…
The management of APDS is mainly focussed on treatment of symptoms...
APDS resources and links
Patients, families & caregivers
APD-INT-2022-0039 Date of preparation: July 2022