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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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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On-line přístup: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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