Patients with tuberous sclerosis werestudied to investigate t h e pathophysiological basis for hamartoma and neoplasia development in this disease. Chromosome banding, aberration following G-2 x-ray exposure, and the frequency of sister chromatid exchange were normal. Mean IgM levels were significantly elevated above those of random institutionalized control patients b u t not above cottage-mate controls. Although 4 out of 10 patients did not respond to any of the skin test antigens used, tuberous sclerosis patients and controls had similar responses to in vitro lymphocyte transformation. This study failed to reveal any cytogenetic abnormalities o r conclusive evidence of immune deficiency in tuberous sclerosis.
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