Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis

Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis

Blau syndrome (BS) is a rare, chronic autoinflammatory disease with onset before age 4 and mainly characterised by granulomatous arthritis, recurrent uveitis, and skin rash. Sporadic (also known as early-onset sarcoidosis) or familial BS is caused by gain-of-function mutations in the NOD2 gene, whic...

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Bibliographic Details
Main Authors: Carlos Córdova-Fletes, Martha M. Rangel-Sosa, Lizeth A. Martínez-Jacobo, Luis Eduardo Becerra-Solano, Carmen Araceli Arellano-Valdés, José Alberto Tlacuilo-Parra, Kame Alberto Galán-Huerta, Ana María Rivas-Estilla, Angélica Alejandra Hernandez-Orozco, José Elías García-Ortiz
Format: Article
Language:English
Published: Taylor & Francis Group 2020-08-01
Series:Autoimmunity
Subjects:
rare inflammatory diseases
blau syndrome
recurrent polyserositis
whole-exome sequencing
gain-of-function nod2 variants
Online Access:http://dx.doi.org/10.1080/08916934.2020.1786068

Internet

http://dx.doi.org/10.1080/08916934.2020.1786068

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