Ataxia telangiectasia is an autosomal recessive syndrome of numerous telangiectasia involving skin, mucosa and sclera, progressive cerebellar ataxia, and a tendency towards infection.
There is defective DNA repair after ultraviolet light, x-ray, or gamma irradiation.
There is reduced IgA, and defective cellular immunity.
The ataxia is usually severe by puberty.
- Because of the defective DNA repair, avoid x-rays and ultraviolet light.