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This case series aims to identify novel pathogenic variants in Vietnamese patients with inborn errors of immunity using whole exome sequencing.

May 31, 2026Frontiers in GeneticsOpen Access

Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity

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Case series identifies pathogenic variants in patients with inborn errors of immunity, highlighting diagnostic importance.

This case series aims to identify novel pathogenic variants in Vietnamese patients with inborn errors of immunity using whole exome sequencing.
Used whole exome sequencing to analyze six Vietnamese patients with inborn errors of immunity.
Screened variants with minor allele frequency <0.001 and assessed pathogenicity using ACMG criteria and in silico tools.
Identified novel and known pathogenic variants in relevant genes associated with immune disorders.
Six pathogenic variants were identified in six patients, including a novel variant c.1110–3C>A in the STAT3 gene.
Other variants included mutations in IL2RG, BTK, STAT6, and NHEJ1 genes.
Findings underscore the critical need for accurate genetic diagnosis to improve treatment and patient care.

Lien et al. (2026) studied this question.

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May 31, 2026Frontiers in GeneticsOpen Access

View Full Paper

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Authors

Case series identifies pathogenic variants in patients with inborn errors of immunity, highlighting diagnostic importance.

This case series aims to identify novel pathogenic variants in Vietnamese patients with inborn errors of immunity using whole exome sequencing.
Used whole exome sequencing to analyze six Vietnamese patients with inborn errors of immunity.
Screened variants with minor allele frequency <0.001 and assessed pathogenicity using ACMG criteria and in silico tools.
Identified novel and known pathogenic variants in relevant genes associated with immune disorders.
Six pathogenic variants were identified in six patients, including a novel variant c.1110–3C>A in the STAT3 gene.
Other variants included mutations in IL2RG, BTK, STAT6, and NHEJ1 genes.
Findings underscore the critical need for accurate genetic diagnosis to improve treatment and patient care.

Lien et al. (2026) studied this question.

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