Ataxia-Telangiectasia: A Multisystem Hereditary Disease with Immunodeficiency, Impaired Organ Maturation, X-Ray Hypersensitivity, and a High Incidence of Neoplasia
- THOMAS A. WALDMANN, M.D.;
- JOHN MISITI, M.D.;
- DAVID L. NELSON, M.D.; and
- KENNETH H. KRAEMER, M.D.
Abstract
Ataxia-telangiectasia is an autosomal, recessive, multisystem disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, recurrent sinopulmonary infections, high incidence of neoplasia, and variable immunodeficiency. Synthesis of antibodies and certain immunoglobulin subclasses is disrupted, due to disorders of B-cell and helper-T-cell function. Patients have various disorders of cell-mediated immunity, including an inability to produce antigen-specific cytotoxic lymphocytes to viral pathogens. Ataxia-telangiectasia is associated with disorders of cell growth and chromosomal integrity as well as an increased sensitivity to certain chemical and physical agents, including ionizing irradiation, and potential abnormalities in DNA repair mechanisms. Patients have an embryonic-appearing thymus and persistent production of alpha-fetoprotein—features suggesting a generalized disorder of tissue differentiation.
Article and Author Information
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▸An edited transcription of a Combined Clinical Staff Conference held on 17 September 1981 at the Clinical Center, Bethesda, Maryland, sponsored by the National Institutes of Health, U.S. Department of Health and Human Services.
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▸Authors who wish to cite a section of the conference and specifically indicate its author can use this example for the form of reference:
MISITI J. Defects in in-vitro generation of antigen-specific antibody responses, pp. 369-71. In: WALDMANN TA, moderator. Ataxia-telangiectasia: a multisystem hereditary disease with immunodeficiency, impaired organ maturation, x-ray hypersensitivity, and a high incidence of neoplasia. Ann Intern Med. 1983;99:367-79.
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▸Requests for reprints should be addressed to Thomas A. Waldmann, MD.; National Institutes of Health, Building 10, Room 4N117, 9000 Rockville Pike; Bethesda, MD 20205.
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