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

Description

Nguyen Thi Kim Lien and colleagues report whole exome sequencing results for six Vietnamese patients with inborn errors of immunity in a 2026 case series. These rare genetic disorders cripple parts of the immune system, and over five hundred genes can cause them. Similar early symptoms across different genes make pinpointing the cause hard without sequencing.

Sequencing found a causative variant in each of the six patients. The genes involved were IL2RG, BTK in two patients, STAT3, STAT6, and NHEJ1, all central to immune cell development or signaling. One variant, in STAT3, had never been reported in a patient before. Each result was checked against international criteria for judging whether a variant causes disease. The authors say firm genetic diagnosis sharpened treatment choices for these patients. They argue wider access to sequencing would improve care for immune disorders in Vietnam.

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Source: https://europepmc.org/articles/PMC13252911