CARD14-Mediated Psoriasis and Pityriasis Rubra Piliaris (PRP)
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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...