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.
Absence of interleukin 2 production in a severe combined immunodeficiency disease syndrome with T cells.
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J P DiSanto, C A Keever, T N Small, G L Nicols, R J O'Reilly, N Flomenberg; Absence of interleukin 2 production in a severe combined immunodeficiency disease syndrome with T cells.. J Exp Med 1 May 1990; 171 (5): 1697–1704. doi: https://doi.org/10.1084/jem.171.5.1697
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