Novel Genetic Variant of Ataxia Telangiectasia Presenting with Necrotising Pneumonia and Bronchopleural Fistulae at the Age of 4 Years.

Ataxia-telangiectasia (A-T) is a genetically inherited disease, which is transmitted as an autosomal recessive disorder. There is a high incidence of consanguineous marriages in our area, so we believe that A-T may have higher incidence. A-T is characterised clinically by triad of cerebellar degeneration, telangiectasia, and immunodeficiency.