Abstract
Ataxia-telangiectasia (AT) is an autosomal recessive immunodeficiency, characterized by progressive ataxia, oculocutaneous telangiectasia, recurrent sinopulmonary infections, absent or reduced serum IgA, low serum IgE and decreased or undetectable IgG2, deficiency of cellular immunity and various endocrine disorders. Elevated serum alpha fetoprotein, chromosomal abnormalities and defective DNA repair following X irradiation or after incubation of lymphocytes with mutagens are other abnormal findings in AT. A high incidence of malignancies, particularly lymphoreticular types, has also been reported (1,2). With the recent demonstration of a clastogenic factor, prenatal diagnosis of AT became possible (3) but the etiopathogenesis is still unknown. The major goals in the research of patients with AT include reliable identification of carriers or heterozygotes, differentiation of any heterogeneity within the group of A-T patients and identification of pathognomonic laboratory findings which would confirm early diagnosis.
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