Article
Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases.
La Tunisie medicale - 1 Jan 2000
Sfaihi Lamia, Stoppa Lyonnet Dominique, Ben Ameur Salma, Dubois D'enghien Catherine, Kamoun Thouraya, Barbouch Mohamed Ridha, Hachicha Mongia
Abstract excerpt
BACKGROUND: Ataxia-telangiectasia (A-T) is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. AIM: We performed this study in order to describe clinical, immunological and molecular features of patients with AT followed in the south of Tunisia...
Topics
- Ataxia Telangiectasia
- Ataxia Telangiectasia Mutated Proteins
- Child, Preschool
- Female
- Humans
- Infant
- Male
- Mutation
- Retrospective Studies
- Tunisia