Genetics

Our study documents the identification of a rare genetic variant, p.Arg228Cys in the PSTPIP1 gene, within a three-generation family initially diagnosed with an FMF/MKD-overlapping phenotype. Despite the absence of the usual pathogenic variants in the MEFV and MVK genes, the presence of the PSTPIP1 variant illuminated new genetic influences on autoinflammatory disorders. Through targeted sequencing and detailed protein-protein interaction analyses, our findings reveal the variant’s significant impact on protein structure and inflammatory signaling. This research enhances our understanding of genetic heterogeneity in autoinflammatory diseases and has profound implications for clinical diagnostics and personalized treatment approaches.