PW03-007 - NLRP3 genetic variants in Schnitzler’s syndrome
نویسندگان
چکیده
منابع مشابه
PW03-007 - 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...
متن کاملPW03-001 - PFAPA syndrome in Turkish children
Results The median age of onset was 12 months, with a maleto-female ratio of 1,6:1. The length of fever attacks ranged between 2-8 days, and symptom-free intervals between 10-45 days. The most common associated symptoms were pharyngitis (100%), abdominal pain (45,1%), aphthous stomatitis (43,7%), and cervical lymphadenitis (32,4%). During fever flares, the leukocyte count and acute phase reacta...
متن کاملPW03-008 – Mitochondrial disturbances in Schnitzler syndrome
Methods Activity and amount of oxidative phosphorylation complexes (OXPHOS) were analysed by spectrophotometry, histochemistry and imunoelectrophoretic methods in fibroblast cell lines derived from skin biopsies of three adult male patients with Schnitzler syndrome. Ultrastructure of mitochondria, mitochondrial network and reactive oxygen species (ROS) were analysed by fluorescent and electron ...
متن کاملPW03-026 - Caspase-1 variants involved in ER stress
Introduction Caspase-1 is a proinflammatory enzyme that is activated by the NLRP3 inflammasome in response to endoplasmic reticulum (ER) stress independent of the classical unfolded protein response. This finding linked ER stress to chronic inflammatory diseases. In patients suffering from unexplained recurrent febrile episodes we detected several genetic variants of CASP1 leading to reduced en...
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...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a233