Activated PI3K delta syndrome

Activated PI3K delta syndrome
Other namesimmunodeficiency 14, p110δ-activating mutation causing senescent T cells, PASLI
Activated PI3K Delta Syndrome is autosomal dominant
SymptomsImmunodeficiency, Lymphadenopathy
CausesMutation in phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform
Diagnostic methodGenetic testing
TreatmentAntiviral therapy

Activated PI3K delta syndrome (APDS) is a primary immunodeficiency disease caused by activating gain of function mutations in the PIK3CD gene.

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