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An immunological and cytogenetic investigation of tuberous sclerosis
Author(s) -
Roos Raymond P.,
Kirkpatrick Charles,
Gadoth Natan,
Berman Wulfred,
Rary Jack
Publication year - 1977
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410010217
Subject(s) - tuberous sclerosis , sister chromatid exchange , pathology , chromosome , immunology , karyotype , multiple sclerosis , immune system , disease , malignant transformation , medicine , biology , genetics , in vitro , gene
Patients with tuberous sclerosis were studied to investigate the 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 but 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 or conclusive evidence of immune deficiency in tuberous sclerosis.