The Autoimmune Regulator (AIRE), Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17

    March 2011 in “ ˜The œAmerican journal of pathology ”
    Vipul Kumar, Luis Alberto Pedroza, Emily M. Mace, Steven H. Seeholzer, George Cotsarelis, Antônio Condino‐Neto, Aimee Payne, Jordan S. Orange
    TLDR AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
    The study found that the Autoimmune Regulator (AIRE) protein, defective in APECED patients, was expressed in human epidermal and follicular keratinocytes and associated with the intermediate filament protein cytokeratin 17 (K17). This association, confirmed through various methods including mass spectrometry and co-immunoprecipitation, suggested a potential role for AIRE in maintaining skin and hair follicle integrity. The findings provided insights into the ectodermal abnormalities seen in APECED, although the exact functional significance of AIRE's interaction with K17 remained unclear.
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