P02-033 - CAPS diagnosis and treatment in an Israeli family
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چکیده
منابع مشابه
P02-033 - 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...
متن کاملP02-020 - CAPS in Turkish children: treatment with ANTI IL1
Case Report Results All of our patients had symptoms within the first 3 months of life. All had fever, urticaria and persistant labaratory inflammation. All except one patient had failure to thrive. Except for the one patient with Muckle Wells syndrome all had neurological features ranging from headache to convulsions, hydrocephalus, cognitive dysfunction.Two patients, one without a mutation, h...
متن کاملP02-032 - 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 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, ...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a140