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) identifier identifier identifier

  • 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.