PW03-014 - TLR4 and MEFV variants are Behçet's risk factors
نویسندگان
چکیده
منابع مشابه
PW03-014 - TLR4 and MEFV variants are Behçet's risk factors
Introduction Genome-wide association studies (GWAS) are a powerful means for identifying genes with disease-associated common variants, but they are not well-suited to detect genes with disease-associated rare or low-frequency variants. It has long been debated whether the innate immune system is involved in the pathogenesis of Behçet’s disease (BD) but genetic evidence to support this hypothes...
متن کاملPW01-014 – MEFV methylation analysis in FMF and JRA diseases
Introduction MEFV is the first identified autoinflammatory gene related to Familial Mediterranean Fever (FMF) disease. We previously the tested the hypothesize of epigenetic involvement in FMF, mainly based on the occurrence of FMF in patients without mutations and decreased MEFV transcripts in leukocyte samples independent from mutations. Our study showed that higher methylation level of MEFV ...
متن کاملPW03-029 – Risk factors for AA-type amyloidosis in Germany
Methods Seventy-three patients with FMF and 39 patients with active systemic inflammation due to autoimmune or idiopathic inflammation were evaluated in our reference center for amyloidosis. Mutations in MEFV and the SAA-1 exon 3 variants were analyzed for their contribution to AA risk. Amyloidosis was detected in all cases by congo red staining of kidney or bowel biopsy specimens and AA was cl...
متن کاملPW03-027 - CASP1 variants and live cell imaging
Introduction Patients with unexplained recurrent febrile episodes and CASP1 variants suffer from systemic sterile inflammation despite reduced secretion of IL-1ß. As previously demonstrated by our group CASP1 variants lead to reduced enzymatic activity of procaspase-1 by destabilizing the tertiary structure of the caspase-1 tetramer. A possible explanation for an alternative pro-inflammatory pa...
متن کاملPW03-007 - NLRP3 genetic variants in Schnitzler’s syndrome
Introduction Schnitzler’s syndrome (SchS) is an autoinflammatory disorder, characterized by chronic urticaria, fever, gammopathy and bone pain. The etiology is unknown, but interleukin-1 (IL-1) inhibition is very effective, like in the cryopyrin associated periodic syndrome (CAPS), that is caused by activating NLRP3 mutations. Previously, a V198M mutation in NLRP3 was reported in one patient wi...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a240