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., ...Daha Fazla

Clinical immunology (Orlando, Fla.), cilt.139, sa.1, ss.6-11, 2011 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 139 Sayı: 1
Basım Tarihi: 2011
Doi Numarası: 10.1016/j.clim.2010.12.021
Dergi Adı: Clinical immunology (Orlando, Fla.)
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.6-11
Anahtar Kelimeler: Autoimmunity, Candidiasis, Endocrinopathy, REGULATOR AIRE GENE, DISEASE TYPE-I, MUTATIONS, AUTOANTIBODIES, PROTEIN, COMMON, TYPE-1
Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.