immunology allergic disorders
Ataxia Telangiectasia
Introduction
Ataxia-telangiectasia results from a DNA repair defect that frequently results in humoral and cellular immunodeficiency; it causes progressive cerebellar ataxia, oculocutaneous telangiectasias, and recurrent sinopulmonary infections. IgA and serum alpha-1 fetoprotein levels are measured. Genetic testing is needed to confirm the diagnosis. Treatment is with prophylactic antibiotics or with immune globulin. (See also Overview of Immunodeficiency Disorders and Ataxia-telangiectasia is an autosomal-recessive Primary Immunodeficiencies that involves Patients often lack IgA and IgE and have a progressive T-cell defect. 