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Iranian Journal of Allergy, Asthma and Immunology، جلد ۱، شماره ۱، صفحات ۳۷-۳۹
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عنوان انگلیسی ATAXIA-TELANGIECTASIA: SURVEY OF 50 PATIENTS IN IRAN
چکیده انگلیسی مقاله Ataxia-telangiectasia (AT) is an autosomal recessive disease characterized by telangiectasia, progressive ataxia, sinopulmonary infection, hypersensitivity to ionizing radiation, and a combined immunodeficiency, usually consisting of selective IgA and IgG, deficiencies, cutaneous anergy, and often depressed but not absent in vitro lymphocyte responsiveness. Reviewing the medical records of 50 patients with AT during 1975 through 1998 admitted to our center, we have noted the following results: the mean age of the patients was 8.3 (range 3 to 14) years, parents of 33 patients were consanguinous, and the sex ratio was 6:5, occuring more in boys than in girls. All 50 patients showed cerebellar ataxia and telangiectasia, 67% were mentally retarded, and 75% have had sinobronchitis and pulmonary infections. 36 patients were tested for ccj-fetoprotein, all of whom showed a positive test. Liver enzymes and plasma glucose levels were not signifi¬cantly abnormal. 24 patients had IgA deficiency, and 8 patients had IgG2 defi¬ciency and 15 patients showed low IgE levels. All patients were tested for T-cells which were abnormal in 17 patients and 20 patients were tested for B-cells, which were abnormal in 18 patients. One patient had growth hormone deficiency. 17 patients had malignancies.
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نویسندگان مقاله a فرهودی | a farhoudi


  m موحدی |   m movahedi


  r یزدانی |   r yazdani


m معین | m moin


  a آقامحمدی |   a aghamohamadi


  z پورپاک |   z pourpak


نشانی اینترنتی http://ijaai.tums.ac.ir/index.php/ijaai/article/view/7
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