PW02-033 - Cytokine profile in CSF in CAPS patients
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منابع مشابه
PW02-033 - Cytokine profile in CSF in CAPS patients
Introduction CAPS is a rare autoinflammatory syndrome caused by autosomal dominant mutations in the NLRP3/CIAS 1 gene on chromosome 1q44 encoding for the cryopyrin protein, an important component of the inflammasome, leading to excessive production of interleukin-1beta (IL-1ß). CAPS encompasses three different entities of variable clinical severity: familial cold auto-inflammatory syndrome (FCA...
متن کاملPW02-026 - Low frequency variants of NLRP3 in CAPS patients
Methods All exons of NLRP3 were amplified by PCR (30 cycles) from genomic DNA isolated from PBMCs of healthy controls or CAPS patients. Thereafter, PCR products were concatenated, fragmented and subjected to NGS fragment library preparation followed by Illumina short read sequencing. For SNV calling a customized pipeline on basis of the GATK pipeline (1000 Genomes project) was utilized using a ...
متن کاملPW02-041 - Canakinumab treatment regimens in CAPS-patients
Introduction Canakinumab is a recombinant monoclonal fully human antibody against Interleukin-1b and currently the only drug approved for the treatment of CAPS in Europe. Current dose recommendations are 150mg (body weight >40kg) respectively 2mg/kg bodyweight (15 to 40kg) every 8 weeks but yield insufficient response in some individuals, especially in children and patients with severe phenotyp...
متن کاملPW02-037 - The Eurofever cohort of 136 patients with CAPS
Results Mean age at disease onset was 5 years. Skin rash, articular involvement and fever were the most prevalent features, respectively in 132, 117 and 108 patients. 6 patients suffered from severe articular involvement defined as flexion contractures, patella overgrowth or bone complications. Neurological involvement was noticed in 55 patients and characterized by morning headaches (n=39), as...
متن کاملP02-033 - CAPS diagnosis and treatment in an Israeli family
Case Report We confirmed the Muckle-Wells syndrome phenotype of CAPS by NLRP3 genetic testing in a three generation family of Turkish Jewish origin, previously diagnosed with familial Behcet disease due to the presence of mucosal ulcers in several family members with the finding of the HLA-B51 antigen in at least one family member. Eight family members including a deceased grandfather, 4 of his...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a174