Severe Adverse Reaction to Measles Vaccine Due to Homozygous Mutation in IFNAR2 Gene: A Case Report and Literature Review of IFNAR2 mutation In a Ten-Month-Old Infant
Description
During a detailed genetic analysis using next-generation sequencing (NGS), a homozygous Variant of Uncertain Significance (VOUS) was detected in the IFNAR2 gene, which is crucial for the body's immune defense mechanisms against viruses. The genetic testing involved fragmenting the genomic DNA and enriching specific target areas, including the human coding exome and mitochondrial genome. This targeted DNA was then sequenced on an advanced Illumina platform to ensure comprehensive and accurate detection of genetic variants. Through an in-depth bioinformatics analysis, which included alignment to the reference GRCh37/hg19 genome, the variant c.713C>A was identified, resulting in a premature stop codon at p.Ser238*. Despite the precise detection, the impact of this specific mutation on the protein function and its clinical implications remains uncertain.