P03-010-B - A novel mutation in MEFV gene is not enough

P03-010-B - A novel mutation in MEFV gene is not enough

Case report A 23-year-old female was diagnosed for FMF in 2002 after a 3-year course of recurrent atypical attacks. Administration of colchicine 1mg was started and symptoms improved. In 2005 she developed fever and epilepsy. CT-scans demonstrated splenic and cerebral lesions of uncertain etiology. Autoantibodies tests were negative. Infectious diseases were ruled out and therapy with steroids ...

P03-001 - PFAPA and MEFV genes

Introduction Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Restless, headache, abdominal pain, vomiting, hepatosplenomegaly and arthralgia are less common symptoms seeing in this disease. The diagnosis is established on the basis of clinical criteria that require the presence of a recurrent...

P03-020 - A novel 15-HPGD mutation in pachydermoperiostosis

Introduction Autosomal recessive primary hypertrophic osteoathropathy (PHO), also known as pachydermoperiostosis (PDP), is a rare genetic disease characterized by clubbing of the fingers, arthritis, periostosis and pachydermia and results from mutations in 15-hydroxyprostaglandin dehydrogenase (HPGD). Recessive mutations in 15-hydroxyprostaglandin dehydrogenase in PHO subjects. has been identif...

MEFV gene mutation distrubution in Azerbaijan population

Introduction Familial Mediterranean fever (FMF)(MIM 249100) is a hereditary autoinflammatory disorder characterized by episodes of inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The Mediterranean fever (MEFV) gene(OMIM 608107) located on chromosome 16p13.3, which encodes the 781-amino-acid protein pyrin, is the causative gene for this monogenic Mendelian d...

P03-010 - IL10 SNPs associated with BD in Western Algeria