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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.

Samuelov L., Sarig O., Harmon R.M., Rapaport D., Ishida-Yamamoto A., Isakov O., Koetsier J.L., Gat A., Goldberg I., Bergman R., Spiegel R., Eytan O., Geller S., Peleg S., Shomron N., Goh C.S., Wilson N.J., Smith F.J., Pohler E., Simpson M.A., McLean W.H., Irvine A.D., Horowitz M., McGrath J.A., Green K.J., Sprecher E.

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 cytoskeleton and have a crucial role in maintaining epidermal integrity and barrier function. Mutations causing SAM syndrome resulted in lack of membrane expression of DSG1, leading to loss of cell-cell adhesion. In addition, DSG1 deficiency was associated with increased expression of a number of genes encoding allergy-related cytokines. Our deciphering of the pathogenesis of SAM syndrome substantiates the notion that allergy may result from a primary structural epidermal defect.

Nat. Genet. 45:1244-1248(2013) [PubMed] [Europe PMC]

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