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

• Main Authors: Carlos Córdova-Fletes (Author), Martha M. Rangel-Sosa (Author), Lizeth A. Martínez-Jacobo (Author), Luis Eduardo Becerra-Solano (Author), Carmen Araceli Arellano-Valdés (Author), José Alberto Tlacuilo-Parra (Author), Kame Alberto Galán-Huerta (Author), Ana María Rivas-Estilla (Author), Angélica Alejandra Hernandez-Orozco (Author), José Elías García-Ortiz (Author)
• Format: Book
• Published: Taylor & Francis Group, 2020-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...