Modelling neurodevelopmental disorder risk in inborn errors of immunity
Ines Serra, Peter van der Spek, Devika Kurup, Arun Karim, Virgil Dalm, Aleksandra Badura · FENS Forum 2024
Over 400 mutations have been identified as contributors to inborn errors of immunity (IEI). Although IEI patients are primarily treated for immunodeficiency, an increasing number of reports have suggested that neurodevelopmental deficits (NDDs) may also be a co-morbidity of IEI. However, the mechanisms by which typically immune mutations could potentially increase NDD risk are currently unknown. To investigate this, we explored whether an overlap between IEI and NDD susceptibility genes existed, and evaluated which pathways were affected by these genes. Data mining of the HGMD and the IUIS gen
ePoster · Neuroscience