CARD14-Mediated Psoriasis and Pityriasis Rubra Piliaris (PRP)
Living reference work entry
First Online:
DOI: https://doi.org/10.1007/978-1-4614-9209-2_122-1
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Synonyms
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
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