Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation and implicates genetic modifiers in disease severity.
Exp Mol Pathol 2019 Jul 19 [Epub ahead of print]
Psoriasis (PS) is a common inflammatory and incurable skin disease affecting 2-3% of the human population. Although genome-wide association studies implicate more than 60 loci, the full complement of genetic factors leading to disease is not known. Rare, highly penetrant, gain-of-function, dominantly acting mutations within the human caspase recruitment domain family, member 14 (CARD14) gene lead to the development of PS and psoriatic arthritis (PSA) (a familial p.G117S and de-novo p.E138A alteration). These residues are conserved in mouse and orthologous Knock-In (KI) mutations within Card14 were created. The Card14
Sundberg, John P; Pratt, C Herbert; Silva, Kathleen A; Kennedy, Victoria E.; Qin, Wenning; Stearns, Timothy M; Frost, Jacqueline; Sundberg, Beth A.; and Bowcock, Anne M, "Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation and implicates genetic modifiers in disease severity." (2019). Faculty Research Ahead of Print. 189.