Whole Exome Sequence Analysis for Inborn Errors of IL-12/IFN-γ Axis in Patient with Recurrent Typhoid Fever.

ABSTRACT:

Background

The IL-12/IFN-γ axis pathways play a vital role in the control of intracellular pathogens such as Salmonella typhi.

Objective

The study is aimed at using whole exome sequencing (WES) to screen out genetic defects in IL-12/IFN-γ axis in patients with recurrent typhoid fever.

Methods

WES using next-generation sequencing was performed on a single patient diagnosed with recurrent typhoid fever. Following alignment and variant calling, exomes were screened for mutations in 25 genes that are involved in the IL-12/IFN-γ axis pathway. Each variant was assessed by using various bioinformatics mutational analysis tools such as SIFT, Polyphen2, LRT, MutationTaster, and MutationAssessor.

Results

Out of 25 possible variations in the IL

SUBMITTER: Hassan FU 

PROVIDER: S-EPMC9957627 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature