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Gain-of-function IKBKB mutation causes human combined immune deficiency.
Cardinez, Chelisa; Miraghazadeh, Bahar; Tanita, Kay; da Silva, Elizabeth; Hoshino, Akihiro; Okada, Satoshi; Chand, Rochna; Asano, Takaki; Tsumura, Miyuki; Yoshida, Kenichi; Ohnishi, Hidenori; Kato, Zenichiro; Yamazaki, Masahide; Okuno, Yusuke; Miyano, Satoru; Kojima, Seiji; Ogawa, Seishi; Andrews, T Daniel; Field, Matthew A; Burgio, Gaetan; Morio, Tomohiro; Vinuesa, Carola G; Kanegane, Hirokazu; Cook, Matthew C.
Afiliação
  • Cardinez C; Centre for Personalised Immunology, Australian National University, Canberra, Australia.
  • Miraghazadeh B; Department of Immunology Canberra Hospital, Canberra, Australia.
  • Tanita K; Department of Immunology and Infectious Diseases, John Curtin School of Medical Research, Australian National University, Canberra, Australia.
  • da Silva E; Centre for Personalised Immunology, Australian National University, Canberra, Australia.
  • Hoshino A; Department of Immunology Canberra Hospital, Canberra, Australia.
  • Okada S; Department of Immunology and Infectious Diseases, John Curtin School of Medical Research, Australian National University, Canberra, Australia.
  • Chand R; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Asano T; Department of Immunology Canberra Hospital, Canberra, Australia.
  • Tsumura M; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Yoshida K; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Ohnishi H; Centre for Personalised Immunology, Australian National University, Canberra, Australia.
  • Kato Z; Department of Immunology Canberra Hospital, Canberra, Australia.
  • Yamazaki M; Department of Immunology and Infectious Diseases, John Curtin School of Medical Research, Australian National University, Canberra, Australia.
  • Okuno Y; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Miyano S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Kojima S; Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Ogawa S; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
  • Andrews TD; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
  • Field MA; Structural Medicine, United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University, Gifu, Japan.
  • Burgio G; Department of Internal Medicine, Keiju Medical Center, Nanao, Japan.
  • Morio T; Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Nagoya, Japan.
  • Vinuesa CG; Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
  • Kanegane H; Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
  • Cook MC; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
J Exp Med ; 215(11): 2715-2724, 2018 11 05.
Article em En | MEDLINE | ID: mdl-30337470
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Quinase I-kappa B / Mutação com Ganho de Função / Heterozigoto / Síndromes de Imunodeficiência Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Quinase I-kappa B / Mutação com Ganho de Função / Heterozigoto / Síndromes de Imunodeficiência Idioma: En Ano de publicação: 2018 Tipo de documento: Article