Ataxia telangiectasia
Ataxia telangiectasia
Definition
Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
Also known as ataxia - telangiectasia, ataxia telangiectasia, ataxia telangiectasia syndrome, Louis-Bar syndrome — per MONDO