Epithelial barrier dysfunction in desmoglein-1 deficiency

L Polivka, S Hadj-Rabia, E Bal… - Journal of Allergy and …, 2018 - jacionline.org
To the Editor: Mutations in the desmoplakin (DSP) and desmoglein-1 (DSG1) genes have
been implicated in patients with the inherited inflammatory skin disease known as severe
dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome (MIM# 603165, see
Tables E1 and E2 in this article's Online Repository at www. jacionline. org). 1, 2 The DSP
and DSG1 genes encode desmosome components that are critical for the structure of
intercellular junctions and maintenance of epithelial barrier integrity. DSP and DSG1 are …