Whole Exome Sequence Analysis for Inborn Errors of IL-12/IFN-γAxis in Patient with Recurrent Typhoid Fever
Date
2023-02-17
Authors
ul Hassan, Faaiz
Aljeldah, Mohammed
Fozia, Fozia
Hussain, Mubbashir
Khan, Taj Ali
Ahmad, Ijaz
Qasim, Muhammad
Khan, Imran
Giesy, John
Aboul-Soud, Mourad
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Wiley
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Article
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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 inpatients with recurrent typhoid fever. Methods. WES using next-generation sequencing was performed on a single patientdiagnosed with recurrent typhoid fever. Following alignment and variant calling, exomes were screened for mutations in 25genes that are involved in the IL-12/IFN-γ axis pathway. Each variant was assessed by using various bioinformatics mutationalanalysis tools such as SIFT, Polyphen2, LRT, MutationTaster, and MutationAssessor. Results. Out of 25 possible variations inthe IL-12/IFN-γ axis genes, only 2 probable disease-causing mutations were identified. These variations were rare and includemutations in IL23R and ZNFX I. Other pathogenic mutations were found, but they were not considered likely to cause diseasebased on various mutation predictors. Conclusion. Applying WES to the patient with recurrent typhoid fever detects variantsthat are not much important as other genes in the IL-12/IFN-γ axis. Results of the current study suggest that a largepopulation sizes would be needed to examine the functional relevance of IL-12/IFN-γ axis genes with recurrent typhoid fever.
Description
The version of record of this article, first published in BioMed Research International, is available online at Publisher’s website: https://doi.org/10.1155/2023/1761283
Keywords
Whole exome sequencing (WES), Inborn errors of immunity, Recurrent typhoid fever, IL‑12/IFN‑γ signaling axis
Citation
ul Hassan, F., Mohamed, Fozia, M. Hussain, T. Ali Khan, S. Siraj, I. Ahmad, M. Qasim, M. Imran, J.P. Giesy and M. Aboul Soud. 2023. Whole Exome Sequence Analysis for Inborn Errors of IL-12/INF- γ Axis in Patients with Recurrent Typhoid Fever. Biomed. Res. Int. 2023:1761283
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DOI
10.1155/2023/1761283