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

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...

This is a preview of subscription content, log in to check access.

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
  3. Harden JL, et al. CARD14 expression in dermal endothelial cells in psoriasis. PLoS One. 2014;9(11):e111255.CrossRefPubMedPubMedCentralGoogle Scholar
  4. Howes A, et al. Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-kappaB activation. Biochem J. 2016;473(12):1759–68.CrossRefPubMedPubMedCentralGoogle Scholar
  5. Jordan CT, et al. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet. 2012a;90(5):796–808.CrossRefPubMedPubMedCentralGoogle Scholar
  6. Jordan CT, et al. PSORS2 is due to mutations in CARD14. Am J Hum Genet. 2012b;90(5):784–95.CrossRefPubMedPubMedCentralGoogle Scholar
  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