Abstract
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.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Antigens, CD / analysis
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Antigens, Differentiation, T-Lymphocyte / analysis
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CD3 Complex
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Cells, Cultured
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Female
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Humans
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Immunologic Deficiency Syndromes / genetics
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Immunologic Deficiency Syndromes / immunology*
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Infant, Newborn
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Interleukin-2 / biosynthesis
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Interleukin-2 / deficiency*
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Interleukin-2 / genetics
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Ionomycin / pharmacology
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Lymphocyte Activation
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Male
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Receptors, Antigen, T-Cell / analysis
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T-Lymphocytes / drug effects
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T-Lymphocytes / immunology*
Substances
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Antigens, CD
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Antigens, Differentiation, T-Lymphocyte
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CD3 Complex
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Interleukin-2
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Receptors, Antigen, T-Cell
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Ionomycin