Search results for "MEFV"
showing 2 items of 12 documents
P03-010-B - A novel mutation in MEFV gene is not enough
2013
Genotype-phenotype correlation is still challenging in FMF patients especially when the disease is part of a complex autoinflammatory disease.
Early Treatment of Systemic Juvenile Idiopathic Arthritis with Canakinumab and Complete Remission After 2 Years of Treatment Suspension: Case Report …
2019
Systemic juvenile idiopathic arthritis (sJIA) is an autoinflammatory disease characterised by fever and arthritis. We describe the case of a 14-year-old girl hospitalised with fever associated with rash, myalgia, arthralgia and polyarticular involvement. Examinations revealed increased levels of C-reactive protein, erythrocyte sedimentation rate, ferritin, triglycerides, leukocytes, neutrophils, lactate dehydrogenase, fibrinogen, aspartate aminotransferase (AST), alanine aminotransferase (ALT) and γ-glutamyl transferase (GGT). Bone marrow biopsy showed polyclonal leukocyte activation. A genetic study revealed a heterozygous mutation of the MEFV gene, c.442G>C (E148Q), which is typical of…