Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

Mazza, Cinzia; Buzi, Fabio; Ortolani, Federica; Vitali, Alberto; Notarangelo, Lucia; Weber, Giovanna; Bacchetta, Rosa; Soresina, Annarosa; Lougaris, Vassilios; Greggio, Nella; Taddio, Andrea; Pasic, Srdjan; de Vroede, Monique; Pac, Malgorzata; Kilic, SARA; Ozden, Sanal; Rusconi, Roberto; Martino, Silvana; Capalbo, Donatella; Salerno, Mariacarolina; Pignata, Claudio; Radetti, Giorgio; Maggiore, Giuseppe; Plebani, Alessandro; Notarangelo, Luigi; Badolato, Raffaele

doi:10.1016/j.clim.2010.12.021

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

Mazza C., Buzi F., Ortolani F., Vitali A., Notarangelo L. D. , Weber G., ...More

Clinical immunology (Orlando, Fla.), vol.139, no.1, pp.6-11, 2011 (Journal Indexed in SCI Expanded)

Publication Type: Article / Article
Volume: 139 Issue: 1
Publication Date: 2011
Doi Number: 10.1016/j.clim.2010.12.021
Title of Journal : Clinical immunology (Orlando, Fla.)
Page Numbers: pp.6-11
Keywords: Autoimmunity, Candidiasis, Endocrinopathy, REGULATOR AIRE GENE, DISEASE TYPE-I, MUTATIONS, AUTOANTIBODIES, PROTEIN, COMMON, TYPE-1

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails.