Abstract

The peripheral blood chromosomes of patients with ataxia-telangiectasia were studied. The general manifestations of this autosomal recessive mutation in the examined patients were: a progressive cerebellar ataxia, oculocutaneous telanggiectasia, recurrent sinopulmonary infections, a deficit or lack of IgA, a diminished number of thymus-derived lymphocytes, and low lymphocyte blasttransformation. In 3 patients lymphoreticular neoplasia was diagnosed.

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