Mutations in PSMB8 Cause CANDLE Syndrome with Evidence of Genetic and Phenotypic Heterogeneity

OBJECTIVE: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autoinflammatory syndrome recently described in children. We investigated the clinical phenotype, genetic cause and the immune dysregulation in nine CANDLE patients. METHODS: Genom...

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Main Authors:	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
Format:	Artigo
Sprog:	Inglês
Udgivet:	2012
Fag:	Article
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC3278554/ https://ncbi.nlm.nih.gov/pubmed/21953331 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.33368
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Mutations in PSMB8 Cause CANDLE Syndrome with Evidence of Genetic and Phenotypic Heterogeneity

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