Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.
Saba JafarpourAbhik BanerjeeNatalie K BoydBenjamin N VogelKelli C PaulsenNusrat AhsanWendy G MitchellShafali S JesteJonathan D SantoroPublished in: Journal of neurology (2022)
We observed a high rate of identification of rare and low-frequency variants in immune regulatory genes in pediatric neuroinflammatory CNS disorders. We identified 88 unique single-nucleotide variants of 55 genes with pathway analysis revealing an enrichment of NOD2-receptor signaling, consistent with involvement of the pathway within other autoinflammatory conditions and warranting further investigation.