Pyrin-associated autoinflammation with neutrophilic dermatosis related to heterozygous MEFV gene variants in cis: Two case reports in a family

GENE(2024)

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摘要
•We reported a Chinese pedigree of PAAND with two affected members, with MEFV P369S and R408Q variants in cis.•The patients were successfully treated with IL-1 inhibitor canakinumab.•Our clinical and functional data confirmed the heterogeneity of MEFV P369S/R408Q variants, and we speculated they might be associated with PAAND.
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MEFV,P369S/R408Q,PAAND
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