Immunologic Deficiency in Ataxia Telangiectasia

IMMUNOLOGIC abnormalities, including hypogammaglobulinemia, abnormalities of gamma1A globulin, poor homograft rejection and structural abnormalities of the thymus gland, have recently been reported in patients with ataxia telangiectasia.1 2 3 4 We have had an opportunity to study 5 patients with this syndrome. All have the clinical features of telangiectasia of the bulbar conjunctiva, cerebellar ataxia, choreoathetosis, masklike facies, recurrent sinopulmonary infections and stunted growth. Their ages range from six to fourteen years, and 2 of the patients are siblings. A detailed clinical and genetic study of these patients has been done and will be presented elsewhere. This report deals with the . . .