論文

査読有り
2001年8月

Defective expression of the interleukin-2/interleukin-15 receptor beta subunit leads to a natural killer cell-deficient form of severe combined immunodeficiency

BLOOD
  • KC Gilmour
  • ,
  • H Fujii
  • ,
  • T Cranston
  • ,
  • EG Davies
  • ,
  • C Kinnon
  • ,
  • HB Gaspar

98
3
開始ページ
877
終了ページ
879
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1182/blood.V98.3.877
出版者・発行元
AMER SOC HEMATOLOGY

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 gammac or JAK-3 genes, and he was investigated for defects in the interleukin-1 5 (IL-15) receptor complex because functional IL-15 signaling is essential for NK cell development. Expression of the IL-2R/IL-15R beta 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 beta expression can lead to a unique NK-deficient SCID immunophenotype. (C) 2001 by The American Society of Hematology.

リンク情報
DOI
https://doi.org/10.1182/blood.V98.3.877
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000170094800053&DestApp=WOS_CPL
URL
http://orcid.org/0000-0003-1296-4256
ID情報
  • DOI : 10.1182/blood.V98.3.877
  • ISSN : 0006-4971
  • ORCIDのPut Code : 12277121
  • Web of Science ID : WOS:000170094800053

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