Last update 01 Nov 2024

Activated PI3K-delta Syndrome

Basic Info

Synonyms
ACTIVATED PI3K-DELTA SYNDROME, APD Syndrome, APDS
+ [18]
Introduction
An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood.

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