P02-022 - Atypical cryopirin associated periodic syndrome
نویسندگان
چکیده
منابع مشابه
P02-022 - Atypical cryopirin associated periodic syndrome
Introduction Cryopyrin-associated periodic syndromes (CAPS) are dominantly inherited autoinflammatory diseases (AD) caused by NLRP3 mutations. They include different phenotypes (FCAS, Muckle-Wells syndrome, and CINCA/ NOMID) with different severity, usually as childhood onset fever and urticarial-like rash. In the last years, the clinical picture of CAPS is growing with other manifestations tha...
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. ...
متن کاملP02-021 - Atypical CAPS consequence of novel NLPR3 mutations
Introduction Cryopyrin-associated periodic syndromes (CAPS) are a group of dominantly inherited disorders caused by gainof-function NLRP3 mutations. These disorders represent different degrees of severity of a same disease being familial cold autoinflammatory syndrome the milder form, Muckle-Wells syndrome an intermediate form and chronic infantile neurologic cutaneous and articular syndrome th...
متن کامل[CAPS: cryopyrin-associated periodic syndrome].
Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of NLRP3 gene. CAPS consists of three phenotypically similar but distinct syndromes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Among them, FCAS shows the mildest phenotype while CINCA is the severest. Common symptoms include sporadic or c...
متن کاملP02-018 - 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...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a129