dc.contributor.author | Akdis, Cezmi | |
dc.contributor.author | Hatemi, Gulen | |
dc.contributor.author | Demiroz, Duygu | |
dc.contributor.author | ÖZÖREN, NESRİN | |
dc.contributor.author | Fresko, Izzet | |
dc.contributor.author | YÜKSEL, Şahru | |
dc.contributor.author | Eren, Elif | |
dc.contributor.author | Sahillioglu, Ali Can | |
dc.contributor.author | Gultekin, Yetis | |
dc.date.accessioned | 2021-03-02T23:10:34Z | |
dc.date.available | 2021-03-02T23:10:34Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | YÜKSEL Ş., Eren E., Hatemi G., Sahillioglu A. C. , Gultekin Y., Demiroz D., Akdis C., Fresko I., ÖZÖREN N., "Novel NLRP3/cryopyrin mutations and pro-inflammatory cytokine profiles in Behets syndrome patients", INTERNATIONAL IMMUNOLOGY, cilt.26, sa.2, ss.71-81, 2014 | |
dc.identifier.issn | 0953-8178 | |
dc.identifier.other | av_10e65663-881c-4880-ace9-938d2e674d30 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/16871 | |
dc.identifier.uri | https://doi.org/10.1093/intimm/dxt046 | |
dc.description.abstract | The role of mutations in NLRP3 in inflammatory features of Behets syndrome.Behets syndrome (BS) is a systemic inflammatory disorder with unknown etiology. Features of both innate and adaptive immunity have been claimed in the pathogenesis of BS. To test the possible dysregulation of the NLRP3/cryopyrin (Nod-like receptor with a pyrin domain 3) inflammasome, as a result of mutation(s), we performed single-strand conformation polymorphism analyses and/or sequencing of all the coding regions and intronexon boundaries of NLRP3/cryopyrin and ASC (apoptosis-associated speck-like protein containing CARD) genes from Turkish BS patients and healthy controls. At the same time, we determined pro-inflammatory cytokine secretion profiles of peripheral blood cells in response to LPS treatment using ELISA. BS patients with vascular involvement showed significantly increased levels of TNF- release at 2-, 4- and 8-h post-treatment and significantly increased IL-1 levels were detected at 2h (P 0.005) and 4h (P 0.025) (n 10). We identified four mutations in the NLRP3/cryopyrin gene, V200M (n 3/104) and T195M (n 1/104), in BS patients but none in control samples. No mutations were detected in the ASC gene. The effect of these NLRP3/cryopyrin mutants on ASC speck assembly and IL-1 secretion was tested and the V200M mutant was shown to induce IL-1 secretion. Thus, it is likely that certain mutations in NLRP3/cryopyrin in combination with yet unknown other factors may contribute to the pro-inflammatory cytokine profiles in BS patients. | |
dc.language.iso | eng | |
dc.subject | Yaşam Bilimleri | |
dc.subject | İmmünoloji | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Temel Bilimler | |
dc.title | Novel NLRP3/cryopyrin mutations and pro-inflammatory cytokine profiles in Behets syndrome patients | |
dc.type | Makale | |
dc.relation.journal | INTERNATIONAL IMMUNOLOGY | |
dc.contributor.department | Boğaziçi Üniversitesi , , | |
dc.identifier.volume | 26 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 71 | |
dc.identifier.endpage | 81 | |
dc.contributor.firstauthorID | 213348 | |