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Ataxia-telangiectasia

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.

ORPHA:100

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

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.