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This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Gilmour, K. C. Articles by Gaspar, H. B. Search for Related Content PubMed PubMed Citation Articles by Gilmour, K. C. Articles by Gaspar, H. B. Related Collections Immunobiology Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 1 August 2001, Vol. 98, No. 3, pp. 877-879 BRIEF REPORT Defective expression of the interleukin-2/interleukin-15 receptor  subunit leads to a natural killer cell-deficient form of severe combined immunodeficiency Kimberly C. Gilmour, Hodaka Fujii, Treena Cranston, E. Graham Davies, Christine Kinnon, and Hubert B. Gaspar From the Molecular Immunology Unit, Institute of Child Health, University College London; the Departments of Clinical Molecular Genetics and Immunology, Great Ormond Street Hospital, London, United Kingdom; and the Department of Immunology, Graduate School of Medicine and Faculty of Medicine, University of Tokyo, Japan. Development of T and natural killer (NK) cells is critically dependent on cytokine signaling, and defects in cytokine receptor complex subunits have been shown to result in severe combined immunodeficiency (SCID) syndromes in humans and in murine models. An infant boy had typical clinical features of SCID and was found to lack NK cells in his peripheral circulation. Molecular analysis did not reveal abnormalities in his c or JAK-3 genes, and he was investigated for defects in the interleukin-15 (IL-15) receptor complex because functional IL-15 signaling is essential for NK cell development. Expression of the IL-2R/IL-15R chain was significantly reduced in the patient's peripheral blood mononuclear cells (PBMCs) by immunoblot, flow cytometry, and Northern blot analysis. Furthermore, IL-2 stimulation of PBMCs showed only minimal tyrosine phosphorylation of JAK-3. These data demonstrate that defects in IL-2R/1L-15R expression can lead to a unique NK-deficient SCID immunophenotype. © 2001 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: N. D. Huntington, N. Legrand, N. L. Alves, B. Jaron, K. Weijer, A. Plet, E. Corcuff, E. Mortier, Y. Jacques, H. Spits, et al. 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