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Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKß.
Burns, Siobhan O; Plagnol, Vincent; Gutierrez, Beatriz Morillo; Al Zahrani, Daifulah; Curtis, James; Gaspar, Miguel; Hassan, Amel; Jones, Alison M; Malone, Marian; Rampling, Dyanne; McLatchie, Alex; Doffinger, Rainer; Gilmour, Kimberly C; Henriquez, Frances; Thrasher, Adrian J; Gaspar, H Bobby; Nejentsev, Sergey.
Afiliação
  • Burns SO; Institute of Immunity and Transplantation, University College London, and the Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom. Electronic address: siobhan.burns@ucl.ac.uk.
  • Plagnol V; UCL Genetics Institute, UCL, London, United Kingdom.
  • Gutierrez BM; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Al Zahrani D; Department of Pediatrics, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
  • Curtis J; Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
  • Gaspar M; Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
  • Hassan A; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Jones AM; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Malone M; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Rampling D; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • McLatchie A; Institute of Immunity and Transplantation, University College London, and the Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom.
  • Doffinger R; Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
  • Gilmour KC; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Henriquez F; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Molecular Immunology Unit, Institute of Child Health, University College London, London, United Kingdom.
  • Thrasher AJ; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Molecular Immunology Unit, Institute of Child Health, University College London, London, United Kingdom.
  • Gaspar HB; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Molecular Immunology Unit, Institute of Child Health, University College London, London, United Kingdom.
  • Nejentsev S; Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
J Allergy Clin Immunol ; 134(1): 215-8, 2014 Jul.
Article em En | MEDLINE | ID: mdl-24679846

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Códon sem Sentido / Quinase I-kappa B / Síndromes de Imunodeficiência / Infecções por Mycobacterium Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2014 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Códon sem Sentido / Quinase I-kappa B / Síndromes de Imunodeficiência / Infecções por Mycobacterium Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Infant Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2014 Tipo de documento: Article País de publicação: Estados Unidos