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Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.
Kienzler, Anne-Kathrin; van Schouwenburg, Pauline A; Taylor, John; Marwah, Ishita; Sharma, Richa U; Noakes, Charlotte; Thomson, Kate; Sadler, Ross; Segal, Shelley; Ferry, Berne; Taylor, Jenny C; Blair, Edward; Chapel, Helen; Patel, Smita Y.
Afiliação
  • Kienzler AK; Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK; Oxford NIHR Biomedical Research Centre, John Radcliffe Hospital, Oxford, UK. Electronic address: anne-kathrin.kienzler@ndm.ox.ac.uk.
  • van Schouwenburg PA; Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK; Oxford NIHR Biomedical Research Centre, John Radcliffe Hospital, Oxford, UK.
  • Taylor J; Oxford NHS Regional Molecular Genetics Laboratory, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Marwah I; Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK; Oxford NIHR Biomedical Research Centre, John Radcliffe Hospital, Oxford, UK.
  • Sharma RU; Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK; Oxford NIHR Biomedical Research Centre, John Radcliffe Hospital, Oxford, UK.
  • Noakes C; Oxford NHS Regional Molecular Genetics Laboratory, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Thomson K; Oxford NHS Regional Molecular Genetics Laboratory, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Sadler R; Department of Clinical Laboratory Immunology, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Segal S; Department of Paediatrics, Children's Hospital, Oxford University NHS Hospitals Trust, Oxford, UK.
  • Ferry B; Department of Clinical Laboratory Immunology, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Taylor JC; Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, Oxford, UK.
  • Blair E; Department of Clinical Genetics, Churchill Hospital, Oxford University NHS Hospitals Trust, Oxford, UK.
  • Chapel H; Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK; Oxford NIHR Biomedical Research Centre, John Radcliffe Hospital, Oxford, UK.
  • Patel SY; Nuffield Department of Medicine, Experimental Medicine Division, University of Oxford, UK; Oxford NIHR Biomedical Research Centre, John Radcliffe Hospital, Oxford, UK.
Clin Immunol ; 163: 17-21, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26680607

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imunoglobulina E / Imunoglobulina M / Fatores de Troca do Nucleotídeo Guanina / Síndromes de Imunodeficiência Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imunoglobulina E / Imunoglobulina M / Fatores de Troca do Nucleotídeo Guanina / Síndromes de Imunodeficiência Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: Clin Immunol Assunto da revista: ALERGIA E IMUNOLOGIA Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos