Topic: inborn errors of immunity

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

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