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Journal of Experimental Medicine, Vol 171, 1697-1704, Copyright © 1990 by Rockefeller University Press
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JP DiSanto, CA Keever, TN Small, GL Nicols, RJ O'Reilly and N Flomenberg
Effector Lymphocyte Biology, Laboratory Sloan-Kettering Institute for Cancer Research, New York, New York 10021.
We have characterized a child with a severe combined immunodeficiency disease syndrome with increased numbers, but a normal distribution, of CD3+ T cells. This patient's immunological defect appears to be attributable to a selective deficiency in T cell production of IL-2, which may reflect a subtle abnormality in the IL-2 gene locus or a defect in a regulatory factor necessary for IL-2 transcription. The increased numbers of phenotypically normal T cells in this patient suggest that alternative pathways of T cell development exist in man or that IL-2 production intra- and extrathymically is controlled via distinct regulatory mechanisms.
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