A familial aggregate of common variable immunodeficiency, Hodgkin disease and other malignancies in Newfoundland--I. Clinical features.
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Biomedical subjects
Publications and source records attributed to G R Fraser.
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An electrophoretic survey of variant red cell enzyme phenotypes in an isolated community in Newfoundland gave gene frequencies in marked contrast to those found in the capital, St. John's. In particular, a variant of red cell superoxide dismutase (SOD) gave a high variant frequency. Possible origins of the variant SOD allele are discussed.
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A large inbred family is described in which there were seven cases of Hodgkin's disease, three of lymphosarcoma, two of thymoma, two of common variable immunodeficiency, and single cases of retinoblastoma, neuroblastoma, and rhabdomyosarcoma. There have been no other lymphoma cases in the community during the past decade. Further study of this family may help to define the genetic basis for development of Hodgkin's disease and other disorders.