Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.

ABSTRACT:

Background

There is a gap in the literature regarding genetic underpinnings of pediatric autoimmune CNS diseases. This study explored rare gene variants implicated in immune dysregulation within these disorders.

Methods

This was a single-center observational study of children with inflammatory CNS disorder who had genetic testing through next generation focused exome sequencing targeting 155 genes associated with innate or adaptive immunity. For in silico prediction of functional effects of single-nucleotide variants, Polymorphism Phenotyping v2, and Sorting Intolerant from Tolerant were used, and Combined Annotation Dependent Depletion (CADD) scores were calculated. Identified genes were analyzed using Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis.

Resu

SUBMITTER: Jafarpour S 

PROVIDER: S-EPMC9372976 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature