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Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch, Annaïse J; Bignucolo, Olivier; Seki, Sayuri; Ghraichy, Marie; Delmonte, Ottavia M; von Niederhäusern, Valentin; Higgins, Rebecca; Ghosh, Adhideb; Nishizawa, Masako; Tanaka, Mariko; Baldrich, Adrian; Köppen, Julius; Hirsiger, Julia R; Hupfer, Robin; Ehl, Stephan; Rensing-Ehl, Anne; Hopfer, Helmut; Prince, Spasenija Savic; Daley, Stephen R; Marquardsen, Florian A; Meyer, Benedikt J; Tamm, Michael; Daikeler, Thomas D; Diesch, Tamara; Kühne, Thomas; Helbling, Arthur; Berkemeier, Caroline; Heijnen, Ingmar; Navarini, Alexander A; Trück, Johannes; de Villartay, Jean-Pierre; Oxenius, Annette; Berger, Christoph T; Hess, Christoph; Notarangelo, Luigi D; Yamamoto, Hiroyuki; Recher, Mike.
Afiliação
  • Jauch AJ; Immunodeficiency Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland.
  • Bignucolo O; Swiss Institute of Bioinformatics, Basel, Switzerland.
  • Seki S; AIDS Research Center, National Institute of Infectious Diseases, Tokyo, Japan.
  • Ghraichy M; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Delmonte OM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • von Niederhäusern V; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Higgins R; Division of Dermatology and Dermatology Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland.
  • Ghosh A; Division of Dermatology and Dermatology Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland; Competence Center for Personalized Medicine, University of Zürich/Eidgenössische Technische Hochschule, Zurich, Switzerland.
  • Nishizawa M; AIDS Research Center, National Institute of Infectious Diseases, Tokyo, Japan.
  • Tanaka M; Department of Pathology, The University of Tokyo, Tokyo, Japan.
  • Baldrich A; Immunodeficiency Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland.
  • Köppen J; Immunodeficiency Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland.
  • Hirsiger JR; Translational Immunology, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland.
  • Hupfer R; Immunodeficiency Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland.
  • Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty for Medicine, University of Freiburg, Freiburg, Germany.
  • Rensing-Ehl A; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty for Medicine, University of Freiburg, Freiburg, Germany.
  • Hopfer H; Institute for Pathology, University Hospital Basel, Basel, Switzerland.
  • Prince SS; Institute for Pathology, University Hospital Basel, Basel, Switzerland.
  • Daley SR; Centre for Immunology and Infection Control, School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland.
  • Marquardsen FA; Immunodeficiency Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland.
  • Meyer BJ; Immunodeficiency Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland.
  • Tamm M; Department of Pneumology, University Hospital Basel, Basel, Switzerland.
  • Daikeler TD; Department of Rheumatology, University Hospital Basel, Basel, Switzerland; University Center for Immunology, University Hospital Basel, Basel, Switzerland.
  • Diesch T; Division of Pediatric Oncology/Hematology, University Children's Hospital Basel, Basel, Switzerland.
  • Kühne T; Division of Pediatric Oncology/Hematology, University Children's Hospital Basel, Basel, Switzerland.
  • Helbling A; Division of Allergology and clinical Immunology, Department of Pneumology and Allergology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Berkemeier C; Division Medical Immunology, Laboratory Medicine, University of Basel and University Hospital of Basel, Basel, Switzerland.
  • Heijnen I; Division Medical Immunology, Laboratory Medicine, University of Basel and University Hospital of Basel, Basel, Switzerland.
  • Navarini AA; Division of Dermatology and Dermatology Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland; University Center for Immunology, University Hospital Basel, Basel, Switzerland.
  • Trück J; Division of Immunology and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • de Villartay JP; Laboratory of Genome Dynamics in the Immune System, Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherché 1163, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Oxenius A; Institute of Microbiology, Eidgenössische Technische Hochschule, Zurich, Switzerland.
  • Berger CT; Translational Immunology, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland; University Center for Immunology, University Hospital Basel, Basel, Switzerland.
  • Hess C; University Center for Immunology, University Hospital Basel, Basel, Switzerland; Immunobiology Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Department of Medicine
  • Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
  • Yamamoto H; Immunodeficiency Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland; AIDS Research Center, National Institute of Infectious Diseases, Tokyo, Japan. Electronic address: h-yamato@niid.go.jp.
  • Recher M; Immunodeficiency Laboratory, Department of Biomedicine, University of Basel and University Hospital of Basel, Basel, Switzerland; University Center for Immunology, University Hospital Basel, Basel, Switzerland. Electronic address: mike.recher@usb.ch.
J Allergy Clin Immunol ; 152(2): 500-516, 2023 08.
Article em En | MEDLINE | ID: mdl-37004747
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Ligases / Síndromes de Imunodeficiência Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Ligases / Síndromes de Imunodeficiência Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Suíça