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Friday, February 4, 2011

ATAXIA TELANGIECTASIA

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.

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