Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype

C. M. L. Volker-Touw, H. D. de Koning, J. Giltay, C. de Kovel, T. S. van Kempen, K. Oberndorff, M. Boes, M. A. M. van Steensel, G. T. J. van Well, W. A. M. Blokx, J. Schalkwijk, A. Simon, J. Frenkel (Lead / Corresponding author), M. E. van Gijn

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    Abstract

    Autoinflammatory disorders (AID) are a heterogeneous group of diseases, characterized by an unprovoked innate immune response, resulting in recurrent or ongoing systemic inflammation and fever(1-3) . Inflammasomes are protein complexes with an essential role in pyroptosis and the caspase-1-mediated activation of the proinflammatory cytokines IL-1β, IL-17 and IL-18 (reviewed in(4,5) ). This article is protected by copyright. All rights reserved.

    Original languageEnglish
    Pages (from-to)244-248
    Number of pages5
    JournalBritish Journal of Dermatology
    Volume176
    Issue number1
    Early online date20 May 2016
    DOIs
    Publication statusPublished - Jan 2017

    Keywords

    • NLRC4
    • interleukin-18
    • skin histology
    • autosomal dominant
    • Anakinra

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