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Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.
Bacchelli, Chiara; Moretti, Federico A; Carmo, Marlene; Adams, Stuart; Stanescu, Horia C; Pearce, Kerra; Madkaikar, Manisha; Gilmour, Kimberly C; Nicholas, Adeline K; Woods, C Geoffrey; Kleta, Robert; Beales, Phil L; Qasim, Waseem; Gaspar, H Bobby.
Afiliação
  • Bacchelli C; Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.
  • Moretti FA; Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom.
  • Carmo M; Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom.
  • Adams S; Bone Marrow Transplantation, Great Ormond Street Hospital NHS Trust, London, United Kingdom.
  • Stanescu HC; Centre for Nephrology, University College London Royal Free Hospital, London, United Kingdom.
  • Pearce K; Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.
  • Madkaikar M; Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom; Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology, ICMR, Mumbai, India.
  • Gilmour KC; Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom; Department of Clinical Immunology, Great Ormond Street Hospital NHS Trust, London, United Kingdom.
  • Nicholas AK; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
  • Woods CG; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
  • Kleta R; Centre for Nephrology, University College London Royal Free Hospital, London, United Kingdom.
  • Beales PL; Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.
  • Qasim W; Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom; Department of Clinical Immunology, Great Ormond Street Hospital NHS Trust, London, United Kingdom.
  • Gaspar HB; Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom; Department of Clinical Immunology, Great Ormond Street Hospital NHS Trust, London, United Kingdom. Electronic address: h.gaspar@ucl.ac.uk.
J Allergy Clin Immunol ; 139(2): 634-642.e5, 2017 02.
Article em En | MEDLINE | ID: mdl-27522155
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de Antígenos de Linfócitos T / Linfócitos T / Imunodeficiência Combinada Severa / Deleção de Sequência / Proteínas Adaptadoras de Transdução de Sinal / Proteínas de Membrana Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de Antígenos de Linfócitos T / Linfócitos T / Imunodeficiência Combinada Severa / Deleção de Sequência / Proteínas Adaptadoras de Transdução de Sinal / Proteínas de Membrana Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article