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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

The Autoimmune Regulator (AIRE), Which Is 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

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Author(s):
Kumar, Vipul [1] ; Pedroza, Luis A. [2, 1, 3] ; Mace, Emily M. [1] ; Seeholzer, Steven [1] ; Cotsarelis, George [4] ; Condino-Neto, Antonio [2] ; Payne, Aimee S. [4] ; Orange, Jordan S. [1]
Total Authors: 8
Affiliation:
[1] Univ Penn, Sch Med, Childrens Hosp Philadelphia, Div Immunol, Dept Pediat, Philadelphia, PA 19104 - USA
[2] Univ Sao Paulo, Inst Biomed Sci, Dept Immunol, Sao Paulo - Brazil
[3] Univ Estadual Campinas, Sch Med, Ctr Invest Pediat, Sao Paulo - Brazil
[4] Univ Penn, Sch Med, Dept Dermatol, Philadelphia, PA 19104 - USA
Total Affiliations: 4
Document type: Journal article
Source: American Journal of Pathology; v. 178, n. 3, p. 983-988, MAR 2011.
Web of Science Citations: 11
Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, which is caused by mutation of the autoimmune regulator (AIRE) gene, is a highly variable disease characterized by multiple endocrine failure, chronic mucocutaneous candidiasis, and various ectodermal defects. AIRE is a transcriptional regulator classically expressed in medullary thymic epithelial cells, monocytes, macrophages, and dendritic cells. Previous studies have suggested that AIRE can shuttle between the nucleus and cytoplasm of cells, although its cytoplasmic functions are poorly characterized. Through mass spectrometry analysis of proteins co-immunoprecipitating with cytoplasmic AIRE, we identified a novel association of AIRE with the intermediate filament protein cytokeratin 17 (K17) in the THP-1 monocyte cell line. We confirmed AIRE expression in HaCaT epidermal keratinocytes, as well as its interaction with K17. Confocal microscopy of human fetal and adult scalp hair follicles demonstrated a cytoplasmic pattern of AIRE staining that moderately colocalized with K17. The cytoplasmic association of AIRE with the intermediate filament network in human epidermal and follicular keratinocytes may provide a new path to understanding the ectodermal abnormalities associated with the APECED syndrome. (Am J Pathol 2011, 178:983-988; DOI: 10.1016/j.ajpath.2010.12.007) (AU)