P02-032 - CAPS: a novel mutation and an unusual phenotype
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چکیده
منابع مشابه
P02-032 - CAPS: a novel mutation and an unusual phenotype
Introduction Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of CIAS1/NLRP3 gene. Affected patients may present with three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Common symptoms include sporadic or cold-induced non pruritic urticarial rash and fever. Severe cas...
متن کاملPReS-FINAL-2199: A novel mutation in the CIAS1/NLRP3 gene associated with an unusual phenotype of CAPS
Introduction Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of CIAS1/NLRP3 gene. Affected patients may present three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Common symptoms include sporadic or cold-induced non pruritic urticarial rash and fever. Severe cases su...
متن کاملP02-029 - CAPS or SJIA
Case Report The patient became ill when she was 3 years old. She had fever, rash and artralgia and pericarditis. After examination in hospital she was diagnosed sJIA. She took glucocorticosteroids 1 mg/kg daily per os, methylprednisolone 10 mg/kg IV, No3, and MTX 10mg/m2/week with positive results. She took that therapy during 2 years. When the dose of GC decreased she had flares (fever, rash, ...
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 کاملP02-033 - CAPS diagnosis and treatment in an Israeli family
Case Report We confirmed the Muckle-Wells syndrome phenotype of CAPS by NLRP3 genetic testing in a three generation family of Turkish Jewish origin, previously diagnosed with familial Behcet disease due to the presence of mucosal ulcers in several family members with the finding of the HLA-B51 antigen in at least one family member. Eight family members including a deceased grandfather, 4 of his...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a139