Autosomal recessive disease that includes cerebeller degeneration, immunodeficiency, sterility, radiosensitivity and increased incidence of lymphoid malignancies.
Caused by mutations in ATM, a gene belonging to the phosphatidylinositol 3-kinase-related family of serine-threonine kinases that function in DNA damage surveillance and repair.
Homozygotes with ataxia telangiectasia gene who survive into their 20’s or 30’s have increased risk for solid cancers of the oral cavity, breast, stomach, pancreas, ovary and bladder cancer and chronic T cell leukemias.