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

    Research output: Contribution to journalLetter

    17 Citations (Scopus)
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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

    Fingerprint

    Inflammasomes
    Caspase 1
    Interleukin-18
    Interleukin-17
    Arthralgia
    Pedigree
    Exanthema
    Interleukin-1
    Innate Immunity
    Fever
    Cytokines
    Inflammation
    Phenotype
    Proteins
    Pyroptosis

    Keywords

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

    Cite this

    Volker-Touw, C. M. L., de Koning, H. D., Giltay, J., de Kovel, C., van Kempen, T. S., Oberndorff, K., ... van Gijn, M. E. (2017). Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype. British Journal of Dermatology, 176(1), 244-248. https://doi.org/10.1111/bjd.14757
    Volker-Touw, C. M. L. ; de Koning, H. D. ; Giltay, J. ; de Kovel, C. ; van Kempen, T. S. ; Oberndorff, K. ; Boes, M. ; van Steensel, M. A. M. ; van Well, G. T. J. ; Blokx, W. A. M. ; Schalkwijk, J. ; Simon, A. ; Frenkel, J. ; van Gijn, M. E. / Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype. In: British Journal of Dermatology. 2017 ; Vol. 176, No. 1. pp. 244-248.
    @article{21acf616f4d54d60966801db4815a46a,
    title = "Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype",
    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.",
    keywords = "NLRC4, interleukin-18, skin histology, autosomal dominant, Anakinra",
    author = "Volker-Touw, {C. M. L.} and {de Koning}, {H. D.} and J. Giltay and {de Kovel}, C. and {van Kempen}, {T. S.} and K. Oberndorff and M. Boes and {van Steensel}, {M. A. M.} and {van Well}, {G. T. J.} and Blokx, {W. A. M.} and J. Schalkwijk and A. Simon and J. Frenkel and {van Gijn}, {M. E.}",
    note = "Funding sources: This study was partly funded by an unrestricted grant from Swedish Orphan Biovitrum AB (SOBI).",
    year = "2017",
    month = "1",
    doi = "10.1111/bjd.14757",
    language = "English",
    volume = "176",
    pages = "244--248",
    journal = "British Journal of Dermatology",
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    }

    Volker-Touw, CML, de Koning, HD, Giltay, J, de Kovel, C, van Kempen, TS, Oberndorff, K, Boes, M, van Steensel, MAM, van Well, GTJ, Blokx, WAM, Schalkwijk, J, Simon, A, Frenkel, J & van Gijn, ME 2017, 'Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype', British Journal of Dermatology, vol. 176, no. 1, pp. 244-248. https://doi.org/10.1111/bjd.14757

    Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype. / Volker-Touw, C. M. L.; de Koning, H. D.; Giltay, J.; de Kovel, C.; van Kempen, T. S.; Oberndorff, K.; Boes, M.; van Steensel, M. A. M.; van Well, G. T. J.; Blokx, W. A. M.; Schalkwijk, J.; Simon, A.; Frenkel, J. (Lead / Corresponding author); van Gijn, M. E.

    In: British Journal of Dermatology, Vol. 176, No. 1, 01.2017, p. 244-248.

    Research output: Contribution to journalLetter

    TY - JOUR

    T1 - Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype

    AU - Volker-Touw, C. M. L.

    AU - de Koning, H. D.

    AU - Giltay, J.

    AU - de Kovel, C.

    AU - van Kempen, T. S.

    AU - Oberndorff, K.

    AU - Boes, M.

    AU - van Steensel, M. A. M.

    AU - van Well, G. T. J.

    AU - Blokx, W. A. M.

    AU - Schalkwijk, J.

    AU - Simon, A.

    AU - Frenkel, J.

    AU - van Gijn, M. E.

    N1 - Funding sources: This study was partly funded by an unrestricted grant from Swedish Orphan Biovitrum AB (SOBI).

    PY - 2017/1

    Y1 - 2017/1

    N2 - 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.

    AB - 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.

    KW - NLRC4

    KW - interleukin-18

    KW - skin histology

    KW - autosomal dominant

    KW - Anakinra

    U2 - 10.1111/bjd.14757

    DO - 10.1111/bjd.14757

    M3 - Letter

    VL - 176

    SP - 244

    EP - 248

    JO - British Journal of Dermatology

    JF - British Journal of Dermatology

    SN - 0007-0963

    IS - 1

    ER -