Ataxia telangiectasia

external

• Synonyms

  • Louis-Bar syndrome

• Causes

  • ATM gene mutation

• Effects

  • Lymphopaenia
  • Defective B-cell function
  • Telangiectasia
  • Hypogammaglobulinaemia

• Parents

  • Autosomal recessive disorder
  • Spinocerebellar ataxia