Article
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Nature genetics - 1 Oct 2013
Samuelov Liat, Sarig Ofer, Harmon Robert M, Rapaport Debora, Ishida-Yamamoto Akemi, Isakov Ofer, Koetsier Jennifer L, Gat Andrea, Goldberg Ilan, Bergman Reuven, Spiegel Ronen, Eytan Ori, Geller Shamir, Peleg Sarit, Shomron Noam, Goh Christabelle S M, Wilson Neil J, Smith Frances J D, Pohler Elizabeth, Simpson Michael A, McLean W H Irwin, Irvine Alan D, Horowitz Mia, McGrath John A, Green Kathleen J, Sprecher Eli
Abstract excerpt
The relative contribution of immunological dysregulation and impaired epithelial barrier function to allergic diseases is still a matter of debate. Here we describe a new syndrome featuring severe dermatitis, multiple allergies and metabolic wasting (SAM syndrome) caused by homozygous mutations in DSG1. DSG1 encodes desmoglein 1, a major constituent of desmosomes, which connect the cell surface to the keratin...
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