Ataxia-telengiectasia: A case report

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.