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Article

Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.

Scientific reports - 16 Aug 2017

Burillo-Sanz Sergio, Montes-Cano Marco-Antonio, García-Lozano José-Raúl, Ortiz-Fernández Lourdes, Ortego-Centeno Norberto, García-Hernández Francisco-José, Espinosa Gerard, Graña-Gil Genaro, Sánchez-Bursón Juan, Rosa Juliá María, Solans Roser, Blanco Ricardo, Barnosi-Marín Ana-Celia, Gómez De la Torre Ricardo, Fanlo Patricia, Rodríguez-Carballeira Mónica, Rodríguez-Rodríguez Luis, Camps Teresa, Castañeda Santos, Alegre-Sancho Juan-Jose, Martín Javier, González-Escribano María Francisca

Abstract excerpt

Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Open in PubMed Open full text

Identifiers

PMID: 28814775
DOI: 10.1038/s41598-017-09164-7
PMCID: PMC5559572

Genes

NOD2
MVK
PSTPIP1
MEFV
NLRP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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