Article
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.
Arthritis and rheumatism - 1 Mar 2012
Liu Yin, Ramot Yuval, Torrelo Antonio, Paller Amy S, Si Nuo, Babay Sofia, Kim Peter W, Sheikh Afzal, Lee Chyi-Chia Richard, Chen Yongqing, Vera Angel, Zhang Xue, Goldbach-Mansky Raphaela, Zlotogorski Abraham
Abstract excerpt
OBJECTIVE: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome) is an autoinflammatory syndrome recently described in children. We undertook this study to investigate the clinical phenotype, genetic cause, and immune dysregulation in 9 CANDLE syndrome patients. METHODS: Genomic DNA from all patients was screened for mutations in PSMB8 (proteasome subunit β type...
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