Comparative analysis of exon 10 and non-exon 10 variants in children with familial mediterranean fever: a retrospective cohort study

Key Points

• This analysis aims to compare the effects of exon 10 and non-exon 10 variants on clinical outcomes in children with familial Mediterranean fever (FMF).
• The study analyzed a large cohort of pediatric patients diagnosed with FMF.
• Participants were categorized into groups based on their genotypes: homozygous exon 10, compound heterozygous exon 10, exon 10-non-exon 10, and single exon 10 allele.
• The associations between variant types and clinical inflammatory phenotype were examined.
• Exon 10-non-exon 10 variant combinations were found to be linked with a clinically relevant inflammatory phenotype.
• These variants showed similarities to those with compound exon 10 genotypes, implying their potential role as genetic modifiers.
• Results suggest that non-exon 10 variants may influence the severity of FMF manifestations.