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...
References
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.
Fuchs-Telem D, et al. Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet. 2012;91(1):163–70.
Harden JL, et al. CARD14 expression in dermal endothelial cells in psoriasis. PLoS One. 2014;9(11):e111255.
Howes A, et al. Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-kappaB activation. Biochem J. 2016;473(12):1759–68.
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.
Jordan CT, et al. PSORS2 is due to mutations in CARD14. Am J Hum Genet. 2012b;90(5):784–95.
Tomfohrde J, et al. Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q. Science. 1994;264(5162):1141–5.
Van Nuffel E, et al. CARD14-mediated activation of paracaspase MALT1 in keratinocytes: implications for psoriasis. J Invest Dermatol. 2017;137(3):569–75.
Author information
Authors and Affiliations
Corresponding authors
Editor information
Editors and Affiliations
Section Editor information
Rights and permissions
Copyright information
© 2018 Springer Science+Business Media LLC
About this entry
Cite this entry
Lowes, M.A., Bowcock, A.M. (2018). CARD14-Mediated Psoriasis and Pityriasis Rubra Piliaris (PRP). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_122-1
Download citation
DOI: https://doi.org/10.1007/978-1-4614-9209-2_122-1
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-9209-2
Online ISBN: 978-1-4614-9209-2
eBook Packages: Springer Reference MedicineReference Module Medicine