Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

CARD14-Mediated Psoriasis and Pityriasis Rubra Piliaris (PRP)

  • Michelle A. LowesEmail author
  • Anne M. BowcockEmail author
Living reference work entry
First Online:
DOI: https://doi.org/10.1007/978-1-4614-9209-2_122-1
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Synonyms

CARD14: Caspase recruitment domain-containing protein 14

CARMA2: CARD-containing membrane-associated guanylate kinase (MAGUK) protein 2

Bimp2: bcl10-interacting maguk protein 2

CAMPS: CARD14 mediated psoriasis

PRP: Pityriasis rubra pilaris

Definition

CARD14 is an important cutaneous scaffold protein. Gain of function mutations in CARD14 lead to enhanced or sustained NF-kB activation, and up-regulation of its target genes which include pro-inflammatory cytokines. The consequence of these and downstream transcriptional alterations are seen clinically as psoriasis or pityriasis rubra pilaris (PRP).

Introduction and Background

Discovery of Disease-Causing CARD14 Mutations

Psoriasis susceptibility locus 2 (PSORS2) was mapped in 1994 to human chromosomal region 17q25-qter in a single large European family (PS1) (Tomfohrde et al. 1994). Affected members had plaque psoriasis and 30% also developed psoriatic arthritis. A second genome-wide linkage scan in a five-generation Taiwanese...

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References

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Copyright information

© Springer Science+Business Media LLC 2018

Authors and Affiliations

  1. 1.The Rockefeller UniversityNew YorkUSA
  2. 2.Icahn School of Medicine at Mount SinaiNew YorkUSA

Section editors and affiliations

  • Raphaela T. Goldbach-Mansky
    • 1
  1. 1.NIAID, Translational Autoinflammatory Disease StudiesNational Institutes of Health Clinical CenterBethesdaUSA