NLRP3 E311K mutation in a large family with Muckle-Wells syndrome - description of a heterogeneous phenotype and response to treatment

INTRODUCTION: Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by fever, rash, arthralgia, conjunctivitis, sensorineural deafness and potentially life-threatening amyloidosis. The NLRP3/CIAS1 E311K mutation caused a heterogeneous phenotype of MWS in a large family....

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Autori principali: Kuemmerle-Deschner, Jasmin B, Lohse, Peter, Koetter, Ina, Dannecker, Guenther E, Reess, Fabian, Ummenhofer, Katharina, Koch, Silvia, Tzaribachev, Nikolay, Bialkowski, Anja, Benseler, Susanne M
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2011
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3334646/
https://ncbi.nlm.nih.gov/pubmed/22146561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/ar3526
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