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ANALYSIS OF THE GENETIC OVERLAP BETWEEN INBORN ERRORS OF IMMUNITY AND NEURODEVELOPMENTAL DISORDERS
Ines Serraand 4 co-authors
Erasmus MC
FENS Forum 2026 (2026)
Barcelona, Spain
Board PS05-09AM-356
Presentation
Date TBA
Board: PS05-09AM-356
Event Information
Poster Board
PS05-09AM-356
Poster
View posterAbstract
Inborn errors of immunity (IEI) are a group of rare genetic disorders affecting the immune system, and leading to increased susceptibility to infection, autoimmunity, allergy, and cancer. Patients with IEI can also present with neurological symptoms including cognitive impairment, developmental delay and seizures, which could be indicative of increased risk for neurodevelopmental disorders (NDDs). However, to date, no exhaustive study has analysed the genetic overlap between NDDs and IEI. Using NDDs and IEI gene variant databases, gene ontology, machine learning, and protein-network clustering analysis, we found that up to one-third of IEI-causing genes are linked to NDDs. While these genes were primarily involved in immune system development and DNA repair pathways, genes associated exclusively with IEI were enriched for immune response functions. Accordingly, genes associated with both IEI and NDDs presented with higher brain cell expression levels than genes only linked to IEI. Functional connectivity analysis highlighted the integration of NDD-risk genes within immune-related networks, particularly those involved in DNA repair functions. Altogether, this work demonstrates a genetic and protein-network level overlap between NDD and IEI-causing genes. Our analysis suggests that NDD phenotypes could be underreported in IEI databases, indicating that additional neuropsychiatric evaluations could benefit specific subgroups of IEI patients.
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