Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

Liu, Yin; Ramot, Yuval; Torrelo, Antonio; S. Paller, Amy; Si, Nuo; Babay, Sofia; W. Kim, Peter; Sheikh, Afzal; Richard Lee, Chyi‐Chia; Chen, Yongqing; Vera, Angel; Zhang, Xue; Goldbach‐Mansky, Raphaela; Zlotogorski, Abraham

doi:10.1002/art.33368

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Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

Shared by NobleBlocks on Feb 28, 2012 • 12:00 AM UTC

Authors:

Yin Liu

Yuval Ramot

Antonio Torrelo

Abstract

Abstract 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...

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