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Nature Research, Nature Genetics, 10(45), p. 1244-1248, 2013

DOI: 10.1038/ng.2739

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

Journal article published in 2013 by Liat Samuelov, Ofer Sarig, Robert M. Harmon, Debora Rapaport, Akemi Ishida-Yamamoto, Ofer Isakov, Jennifer L. Koetsier, Andrea Gat, Ilan Goldberg, Reuven Bergman, Ronen Spiegel, Ori Eytan, Shamir Geller ORCID, Sarit Peleg, Noam Shomron and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 play a crucial role in maintaining epidermal integrity and barrier function. SAM syndrome-causing mutations 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. The deciphering of the pathogenesis of SAM syndrome substantiates the notion that allergy may result from a primary structural epidermal defect.