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Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants.
Hargreaves, Chantal E; Dhalla, Fatima; Patel, Arzoo M; de Oteyza, Andrés Caballero Garcia; Bateman, Elizabeth; Miller, Joanne; Anzilotti, Consuelo; Ayers, Lisa; Grimbacher, Bodo; Patel, Smita Y.
  • Hargreaves CE; Nuffield Department of Medicine and National Institute for Health Research Biomedical Research Centre, University of Oxford, Oxford, United Kingdom. Electronic address: chantal.hargreaves@ndm.ox.ac.uk.
  • Dhalla F; Clinical Immunology Department, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
  • Patel AM; Nuffield Department of Medicine and National Institute for Health Research Biomedical Research Centre, University of Oxford, Oxford, United Kingdom.
  • de Oteyza ACG; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Germany.
  • Bateman E; Department of Immunology, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
  • Miller J; Clinical Immunology Department, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
  • Anzilotti C; Clinical Immunology Department, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
  • Ayers L; Department of Immunology, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
  • Grimbacher B; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Germany; DZIF - German Center for Infection Research, Satellite Center Freiburg, Germany; CIBSS - Centre for Integrative Biological Signalling Studie
  • Patel SY; Nuffield Department of Medicine and National Institute for Health Research Biomedical Research Centre, University of Oxford, Oxford, United Kingdom; Clinical Immunology Department, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom.
Clin Immunol ; 234: 108910, 2022 01.
Article en En | MEDLINE | ID: mdl-34922003
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Subunidad p50 de NF-kappa B / Proteína Activadora Transmembrana y Interactiva del CAML / Fosfatidilinositol 3-Quinasa Clase Ia / Haploinsuficiencia / Síndromes de Inmunodeficiencia Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Subunidad p50 de NF-kappa B / Proteína Activadora Transmembrana y Interactiva del CAML / Fosfatidilinositol 3-Quinasa Clase Ia / Haploinsuficiencia / Síndromes de Inmunodeficiencia Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article