{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T18:43:20Z","timestamp":1793472200349,"version":"4.5.0"},"reference-count":21,"publisher":"American Society of Hematology","issue":"3","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2001,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 \u03b3c 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\u03b2 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\u03b2 expression can lead to a unique NK-deficient SCID immunophenotype.<\/jats:p>","DOI":"10.1182\/blood.v98.3.877","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T12:46:47Z","timestamp":1027774007000},"page":"877-879","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":92,"title":["Defective expression of the interleukin-2\/interleukin-15 receptor \u03b2 subunit leads to a natural killer cell\u2013deficient form of severe combined immunodeficiency"],"prefix":"10.1182","volume":"98","author":[{"given":"Kimberly C.","family":"Gilmour","sequence":"first","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hodaka","family":"Fujii","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Treena","family":"Cranston","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Graham","family":"Davies","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Kinnon","sequence":"additional","affiliation":[{"name":"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."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hubert 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