Orphanet: Ataxia telangiectasia

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Disease definition

A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasia, increased susceptibility to infections and a higher risk of cancer.


Classification level: Disorder
  • Synonym(s):
    • Louis-Bar syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G11.3
  • OMIM: 208900  208910
  • UMLS: C0004135
  • MeSH: D001260
  • GARD: 5862
  • MedDRA: 10003594

Detailed information

Article for general public


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