Abstract
We report on two patients affected with severe combined immune deficiency (SCID) with an unusual immunological phenotype and a substantial number of autologous, poorly functioning T cells. Distinct mutations identified at the IL2RG locus in the two patients impaired IL-2-mediated signaling but affected T-cell lymphopoiesis differently, resulting in generation of a polyclonal or oligoclonal T-cell repertoire. These observations add to the growing complexity of the immunological spectrum of SCID in humans and indicate the need for detailed immunological and molecular investigations in atypical cases.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Antigens, Differentiation
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Apoptosis
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Gene Rearrangement, T-Lymphocyte
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Genetic Linkage*
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Humans
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Infant
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Janus Kinase 3
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Leukopoiesis
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Mutation
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Phenotype
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Protein-Tyrosine Kinases / metabolism
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Proto-Oncogene Proteins c-bcl-2
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Receptors, Interleukin-2 / genetics*
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Severe Combined Immunodeficiency / immunology*
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Signal Transduction
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T-Lymphocytes / immunology*
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X Chromosome*
Substances
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Antigens, Differentiation
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Proto-Oncogene Proteins c-bcl-2
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Receptors, Interleukin-2
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Protein-Tyrosine Kinases
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JAK3 protein, human
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Janus Kinase 3