P02-018 - PSTPIP1 gene mutations in periodic fever patients
نویسندگان
چکیده
Introduction Familial Mediterranean Fever (FMF) is considered a rare disease in Japan. Our institution began screening for MEFV gene mutations in patients with periodic fever in 2005. Among the 18 patients screened, we have identified 11 (56.5%) FMF patients with heterozygous M694I/E148Q mutations. Among the other 7 patients, no pathogenic mutations were detected by the direct sequencing of all exons and the promoter region of the MEFV gene. PSTPIP1, the protein responsible for PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum, and acne), has recently been found to bind with pyrin and to allow pyrin to interact with ASC. In this study we investigated whether PSTPIP1 mutations could be found in the 7 periodic fever patients without pathogenic MEFV mutations.
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P02-006 - A novel PSTPIP1 mutation in PAPA syndrome
Introduction Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is an autosomal dominant autoinflammatory disease caused by mutations in the proline-serinethreonine phosphatase-interacting protein 1, PSTPIP1. The produced protein is a cytoskeleton-associated adaptor protein that modulates T-cell activation, cytoskeletal organization and IL-1b release. The only two mutations desc...
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