PW02-040 - Low-penetrance NLRP3 variants
نویسندگان
چکیده
Methods This multi-center observational study included 44 patients (25 children and 19 adults). All patients were symptomatic with some symptoms suggesting possible CAPS at the time of baseline examination. Genetic analysis detected one of the following NLRP3 variants: Q703K (n=18), R488K (n=6), and V198M (n=20). Clinical phenotypes were described and laboratory markers were analyzed. In order to review the response to IL-1 inhibitors, data from follow-up visits were also evaluated.
منابع مشابه
A functional inflammasome activation assaydifferentiates patients with pathogenic NLRP3mutations and symptomatic patients with lowpenetrance variants
Cryopyrin-associated periodic syndromes (CAPS) are characterized by recurrent episodes of systemic inflammation caused by mutations in the NLRP3 gene. Besides confirmed pathogenic NLRP3 mutations, patients with CAPS-like symptoms frequently show low penetrance variants in NLRP3. The disease relevance of these variants is inconsistent. In this study, we investigated if an inflammasome activation...
متن کاملA functional inflammasome activation assay discriminates between genetically proven caps patients and patients with low penetrance NLRP3 variants
Introduction The cryopyrin-associated periodic syndromes (CAPS) are characterized by recurrent episodes of systemic inflammation. CAPS is caused by mutations in the NLRP3 gene encoding cryopyrin, an important component of the NLRP3 inflammasome that activates caspase-1 resulting in inflammation by excessive production of IL-1b and others. A diagnostic dilemma is often encountered in patients wi...
متن کاملPW02-032 - CNS manifestations and NLRP3/CIAS1 gene mutations
Results 15 patients (16%; 12 females) were identified to carry one of the two low-penetrance mutations in exon 3 of the NLRP3 gene (V198M: n= 2; Q703K: n =13). CAPS-associated systemic symptoms consisted of recurrent inflammation of the eyes, arthralgias, myalgias, urticarial rash, abdominal pain, and severe fatigue. CNS manifestation included optic nerve inflammation and/or atrophy, cranial ne...
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 کاملPReS-FINAL-2331: Low-penetrance NLRP3 variants
Methods This multi-center observational study included 45 patients (26 children and 19 adults) (study group). At baseline examination, all patients displayed some symptoms suggestive of CAPS. Genetic analysis detected one of the following NLRP3 variants: Q703K (n = 19), R488K (n = 6), and V198M (n = 20). Clinical presentation was recorded and inflammation markers were analyzed. Data from follow...
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2013