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
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...

Keywords

Pityriasis Rubra Pilaris Caspase Recruitment Domain Family, Member 14 (CARD14) Psoriasis Susceptibility Loci (PSORS2) Membrane-associated Guanylate Kinase (MAGUK) Paracaspase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Eytan O, et al. Clinical response to us tekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD14. Br J Dermatol. 2014;171(2):420–2.CrossRefPubMedGoogle Scholar
  2. Fuchs-Telem D, et al. Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet. 2012;91(1):163–70.CrossRefPubMedPubMedCentralGoogle Scholar
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  7. Tomfohrde J, et al. Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science. 1994;264(5162):1141–5.CrossRefPubMedGoogle Scholar
  8. Van Nuffel E, et al. CARD14-mediated activation of paracaspase MALT1 in keratinocytes: implications for psoriasis. J Invest Dermatol. 2017;137(3):569–75.CrossRefPubMedGoogle Scholar

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