Ataxia-telengiectasia: A case report


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

MEDICAL JOURNAL OF BAKIRKOY, vol.3, no.2, pp.73-77, 2007 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 3 Issue: 2
  • Publication Date: 2007
  • Journal Name: MEDICAL JOURNAL OF BAKIRKOY
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.73-77
  • Keywords: Ataxia telengiectasia, recurrent sinopulmoner infections, differential diagnosis
  • Istanbul University Affiliated: No

Abstract

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.