Demographic and systemic manifestations of patients diagnosed with ataxia-telangiectasia

Catal F., TOPAL E., Celiksoy M. H., Ermistekin H., Kutluturk K., Yildirim N., ...Daha Fazla

ASTIM ALLERJI IMMUNOLOJI, cilt.12, sa.2, ss.83-90, 2014 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12 Sayı: 2
  • Basım Tarihi: 2014
  • Dergi Adı: ASTIM ALLERJI IMMUNOLOJI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.83-90
  • Anahtar Kelimeler: Ataxia-telangiectasia, immunodeficiency, pigmentary anomalies
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Objective: Ataxia-telangiectasia is rare, an autosomal recessive, neurodegenerative disorder characterized by progressive cerebellar ataxia, cutaneous and conjunctival telangiectasia, immunodeficiency, and increased risk of malignancy. In this study, we aim to determinate demographics, neurological, dermatological and immunological manifestation of children diagnosed with ataxia-telangiectasia in our clinics.