Skip to contentSkip to filters

We use cookies for analytics.

Topic: cerebellar-dependent sensorimotor learning

ePoster
1 ePoster

In Neuroscience

Unraveling the role of PIK3CD GOI mutation on CNS and behavior

Devika Kurup, Ines Serra, Aleksandra Badura · FENS Forum 2024

Inborn errors of immunity (IEI), also known as primary immune deficiencies, are rare diseases caused by distinct pathogenic genetic variants, affecting approximately 1 in 25,000 people. While IEI are primarily associated with increased susceptibility to infection, autoimmunity, and cancer, recent clinical research indicates their impact extends to multiple systems, including the brain. Specifically, activated PI3K-Delta Syndrome (APDS), a rare genetic disorder resulting from mutations in the Pik3cd gene encoding the PI3Kδ enzyme, has been recently linked to neurodevelopmental disorders (NDD).O

ePoster · Neuroscience