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

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

C2 - 27203668

SN - 0007-0963

VL - 176

SP - 244

EP - 248

JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 1

ER -