Novel genetic variants of inborn errors of immunity.

ABSTRACT:

Objectives

Inborn errors of immunity (IEI) are prevalent in tribal cultures due to frequent consanguineous marriages. Many of these disorders are autosomal recessive, resulting from founder mutations; hence they are amenable to prevention. The primary objective of this study was to evaluate the pathogenicity of novel variants of IEI found among Emiratis.

Methods

This retrospective data collection study reports novel variants of IEI detected by diagnostic exome sequencing. Pathogenicity prediction was based on scoring tools, amino acid alignment, and Jensen-Shannon divergence values.

Results

Twenty-one novel variants were identified; nine were frameshift, three nonsense, four intronic (one pathogenic), and five missense (two pathogenic). Fifteen variants were likely pa

SUBMITTER: Almarzooqi F 

PROVIDER: S-EPMC7822508 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature