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Epithelial barrier dysfunction in desmoglein-1 deficiency

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Polivka, Laura | Hadj-Rabia, Smaïl | Bal, Elodie | Leclerc-Mercier, Stéphanie | Madrange, Marine | Hamel, Yamina | Bonnet, Damien | Mallet, Stéphanie | Lepidi, Hubert | Ovaert, Caroline | Barbet, Patrick | Dupont, Christophe | Neven, Bénédicte | Munnich, Arnold | Godsel, Lisa, M | Campeotto, Florence | Weil, Robert | Laplantine, Emmanuel | Marchetto, Sylvie | Borg, Jean-Paul | Weis, William, I | Casanova, Jean-Laurent | Puel, Anne | Green, Kathleen | Bodemer, Christine | Smahi, Asma

Edité par CCSD ; Elsevier -

International audience. 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 also key regulators of signaling pathways involved in differentiation, epidermal homeostasis, and carcinogenesis. DSG1 promotes keratinocyte differentiation by inhibiting epidermal growth factor receptor/extracellular signal-regulated kinase signaling through ERBB2-interacting protein (ERBIN), a scaffolding and signaling protein.3 Through characterization of a new syndrome featuring severe allergic dermatitis and DSG1 deficiency, we highlighted the pivotal role of the functional DSG1/ERBIN interaction as an inhibitor of skin inflammation through the nuclear factor κB (NF-κB) signaling pathway.

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