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

doi:10.1016/j.clim.2010.12.021

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Article

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

Clinical immunology (Orlando, Fla.) - 1 Apr 2011

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

Abstract excerpt

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. We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has...

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PMID: 21295522
DOI: 10.1016/j.clim.2010.12.021

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AIRE

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