background: systemic-onset juvenile idiopathic arthritis (sojia) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. despite, the main genetic factors that may play a role in sojia have not yet been identified. high level of interleukin-1beta in the blood of sojia patients has been reported. the production and sec...

This study examines the frequency of TNFRSF1A gene R92Q mutation in patients with Familial Mediterranean Fever (FMF) and the role of this mutation in FMF. The study included 223 FMF patients with definite diagnosis, according to Tel-Hashomer criteria, carrying two mutations and 205 FMF patients as controls (symptomatically diagnosed) with definite diagnosis but without any of the MEFV gene muta...

background: familial mediterranean fever (fmf) has episodic or subclinical inflammation that may lead to a decrease in bone mineral density (bmd). the objective of this study was to assess bmd in egyptian children with fmf on genetic basis. methods: a cross sectional study included 45 fmf patients and 25 control children of both sexes in the age range between 3-16 years old. the patients were r...

BACKGROUND Familial Mediterranean fever (FMF) is the most common autoinflammatory disorder in the world. It is characterized by recurrent febrile inflammatory attacks of serosal and synovial membranes. MEFV gene mutations are responsible for the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. Although the disease ma...

References 1. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25–31. 2. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90:797–807. 3. Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, et al. MEFV-gene analysis i...

Objective We aimed to evaluate frequency and distribution MEFV gene mutation variants in patients with presumptive diagnosis of Familial Mediterranean Fever (FMF). Material Methods Patients who had undergone FMF targeted analysis between September 2018 2019 were retrospectively analyzed. Twenty-six distinct studied. Demographic clinical data study participants collected from patient charts hosp...

Methods We describe a patient initially evaluated at 10 months of age for gross developmental delay, failure to thrive, splenomegaly, and microcytic anemia. Physical exam was significant for weight <3rd percentile, splenomegaly (down 5cm), and head lag. Initial laboratories revealed microcytic anemia (hemoglobin 8.7 g/dL); elevated platelets 499 K/uL, C-reactive protein 23.2 mg/dL (<0.2) and er...