P02-018 - PSTPIP1 gene mutations in periodic fever patients
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چکیده
منابع مشابه
P02-018 - PSTPIP1 gene mutations in periodic fever patients
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...
متن کاملPW01-019 – MEFV gene mutations in 53 periodic fever patients
Methods We collected clinical and laboratory data from periodic fever patients followed at our center from the beginning of 2006 to the end of 2012. Results of genetic testing for MEFV gene mutations were also collected. Genetic testing was performed in Genetic laboratory of University Children’s Hospital Ljubljana. All 10 exons and exon/ intron regions of MEFV gene were directly sequenced with...
متن کاملP02-006 - 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...
متن کاملP02-001 – A novel TNFRSF1A mutation in periodic fever
Introduction Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory disease characterized by periodic fever, accompanying with attacks of abdominal pain, arthralgia, myalgia, erythematous rashes, periorbital edema and conjunctivitis. Mutations in the extracellular domain of the 55-kD tumor necrosis factor receptor (TNFRSF1A) has been shown ...
متن کاملP02-017 - Periodic fever syndrome masquerading as eczema…
Case Report A 22 year-old woman presented with a six-year history of periodic fevers, skin and joint disease. She presented with an intermittent, intensely pruritic red rash on the torso and extremities, associated with recurrent non-axial joint pain and swelling, and periodic fevers lasting for days to weeks. These symptoms were triggered by exposure to heat, cold weather, dry air, and sweat. ...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a125