Autoinflammation due to homozygous S208 MEFV mutation

Abstract

Figure 1 Family tree, genetic sequencing results, proinflammatory cytokines and pyrin inflammasome activation in patients with homozygous p.S208T MEFV mutation. (A) The family tree shows the two affected male siblings and their unaffected sibling from the consanguineous marriage of first cousins; segregation of the p.S208T MEFV variant is also shown. (B) Sanger sequencing chromatogram of MEFV gene aligned to reference sequence exon 2 of MEFV. Line indicates a homozygous mutation of MEFV at position c.623 (red dashed box) present in both affected patients (IV-1