Ataxia telangiectasia, a defect of embryogenesis, is characterized by cerebeller ataxia, ocular and cutaneous telangiectasia, chronic sinopulmonary infection, endocrinal abnormalities and immunodeficiency of B and T cell ( most frequently IgA and IgE deficiency, singly or together).
All subjects demonstrate presence of alpha-feto protein, carcinoembryonic antigen. Inheritance is as autosomal trait of presumably recessive type. Because of faulty DNA repair mechanism, X-ray exposure must be avoided in the subjects with this condition. Death follows lymphoreticular malignancy with the worsening of the T cell deficiency, or resistant infection.
All subjects demonstrate presence of alpha-feto protein, carcinoembryonic antigen. Inheritance is as autosomal trait of presumably recessive type. Because of faulty DNA repair mechanism, X-ray exposure must be avoided in the subjects with this condition. Death follows lymphoreticular malignancy with the worsening of the T cell deficiency, or resistant infection.
No comments:
Post a Comment