Ataxia telangectasia

Ataxia telangiectasia (A-T) is an autosomal recessive disorder caused by inactivating mutations in the ataxia telangiectasia mutated (ATM) gene, which leads to DNA repair defects. A-T has an estimated prevalence of 1:40.000-1:100.000 births. Symptoms develop early in childhood, including neurodegeneration with cerebral ataxia, oculocutaneous telangiectasia, immunodeficiency and an increased cancer risk. Most patients are wheelchair-bound by their second decade of life. The median 20 years survival of A-T patients is 53.4%, mostly due to severe infections. Recently, hematopoietic stem-cell transplantation (HSCT) has been proposed to cure the immunodeficiency and to reduce the risk for cancer in A-T. Gene therapy could circumvent the HSCT-associated risk of conditioning toxicity and Graft versus Host Disease (GvHD) in A-T.