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Retrospective cohort study reports inflammatory phenotype in children with exon 10 and non-exon 10 variants, suggesting genetic interactions.
• This is one of the largest pediatric FMF cohorts systematically stratified into homozygous exon 10, compound heterozygous exon 10, exon 10-non-exon 10 groups, and single exon 10 allele • Exon 10-non-exon 10 variant combinations were associated with a clinically relevant inflammatory phenotype resembling compound exon 10 genotypes, suggesting a potential modifier role of non-exon 10 variants.
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Menentoğlu et al. (2026) studied this question.
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