350 Dual role of CARD14 in skin inflammatory diseases

Atopic dermatitis (AD) is a highly prevalent chronic inflammatory skin disease that is known to be, at least in part, genetically determined. Mutations in caspase recruitment domain-containing protein 14 (CARD14) have been shown to result in various forms of psoriasis and pityriasis rubra pilaris. In this research project, we aimed to identify rare DNA variants conferring a significant risk for AD through genetic and functional studies in a cohort of patients affected with severe AD. Whole exome and direct gene sequencing revealed in 4 patients from three families, 2 rare heterozygous missense mutations in the gene encoding CARD14, a major regulator of nuclear factor κB (NF-κB).

Source: Journal of Investigative Dermatology - August 31, 2019 Category: Dermatology Authors: A. Peled, O. Sarig, G. Sun, L. Samuelov, A. Freeman, L. Vidal, L. Chamarthy, J. Walter, J. Milner, E. Sprecher Tags: Innate Immunity and Inflammation Source Type: research