Last update 21 Mar 2024

Activated PI3K-delta Syndrome

Basic Info

Synonyms
ACTIVATED PI3K-DELTA SYNDROME, APD Syndrome, APDS
+ [18]
Introduction
An autosomal dominant primary immunodeficiency caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by recurrent infections in the lungs, paranasal sinuses, and ears; lymphopenia, particularly B-cells and T-cells.

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