Ataxia-telengiectasia: A case report

Uysalol M., Eker N., Incioglu A., Pasli E.

MEDICAL JOURNAL OF BAKIRKOY, cilt.3, sa.2, ss.73-77, 2007 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 3 Sayı: 2
  • Basım Tarihi: 2007
  • Dergi Adı: MEDICAL JOURNAL OF BAKIRKOY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.73-77
  • Anahtar Kelimeler: Ataxia telengiectasia, recurrent sinopulmoner infections, differential diagnosis
  • İstanbul Üniversitesi Adresli: Hayır

Özet

Ataxia-telengiectasia (AT) is a rare multisystemic autosomal-recessive disease characterized with oculocutaneous telengiectasies, recurrent sinopulmonary infections associated with humoral and cellular immune deficiencies, increased sensitivity to ionizing radiation and susceptibility to malignancies. Prevalence of the disease is known to be 1-3/40000- 100.000.