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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha: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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