TERMIUM Plus®

The Government of Canada’s terminology and linguistic data bank.

ATM SYNDROME [1 record]

Record 1 2019-09-23

English

Subject field(s)
  • Human Diseases
  • Nervous System
  • Genetics
DEF

An autosomal recessive disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, recurrent sinopulmonary infections, high incidence of malignancy, and an immunodeficiency showing a variable disorder of cellular immunity ...

French

Domaine(s)
  • Maladies humaines
  • Système nerveux
  • Génétique
CONT

Le syndrome d'ataxie-télangiectasie est un syndrome héréditaire à transmission autosomique récessive, associant une ataxie cérébelleuse, des télangiectasies, un abaissement du taux sérique des IgA et des IgG, mais pas des IgM. Les déficits en IgG2 et IgG4 sont très fréquents. Il existe aussi un déficit des cellules T. Les infections bactériennes, notamment bronchiques et ORL [otorhinolaryngologiques], sont fréquentes ainsi que les manifestations auto-immunes et les cancers, en particulier du tissu lymphoïde.

Spanish

Campo(s) temático(s)
  • Enfermedades humanas
  • Sistema nervioso
  • Genética
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