PW02-034 - NLRP3 mosaicism detection in CAPS using NGS
نویسندگان
چکیده
منابع مشابه
PW02-034 - NLRP3 mosaicism detection in CAPS using NGS
Methods Six well-defined mutation-negative CAPS patients were included. In addition two CAPS patients that were identified before as mosaics, by a subcloning and Sanger sequencing method, were included for validation purposes. In short, barcoded whole genome fragment libraries were generated for each patient, enriched for the coding regions of 300 inflammation related genes using a custom Agile...
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 کاملPW02-025 - Programme necrosis by CAPS-associated NLRP3
Introduction Cryopyrin-associated periodic syndrome (CAPS), clinically characterized by neutrophil-rich urticarial rash, is associated with missense mutations in NLRP3. NLRP3 is a pattern recognition receptor in the cytoplasm of cells and structurally related to plant resistance proteins, which detect pathogenor danger-associated signals, leading to programmed cell death and hyper response at t...
متن کاملPW02-028 - Association of novel NLRP3 mutations with CAPS phenotype in Turkish patients
Introduction Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare, inherited, autoinflammatory diseases involved of Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and Neonatal Onset Multisystem Inflammatory Disease (NOMID) (also called Chronic Infantile Neurologic Cutaneous Articular, or CINCA, Syndrome. The responsible gene NLRP3 (nucleotide-binding d...
متن کاملP02-023 - NLRP3 mosaicism as a cause of late-onset CAPS
Introduction The dominantly inherited cryopyrin-associated periodic syndromes (CAPS) are caused by heterozygous missense gain-of-function mutations in the NLRP3 (CIAS1) gene encoding NLRP3 (also known as cryopyrin). Most patients present at a young age with a variety of clinical symptoms including fevers, urticaria-like skin rash, arthropathy, and CNS inflammation. A subset of patients followed...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a175