Details
Title
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation
Author
Tavernier, S J 1 ; Athanasopoulos, V 2 ; Verloo, P 3 ; Behrens, G 4 ; Staal, J 5
; Bogaert, D J 6 ; Naesens, L 7 ; De Bruyne, M 8
; S Van Gassen 9 ; Parthoens, E 10 ; Ellyard, J 11 ; Cappello, J 11 ; Morris, L X 12 ; H Van Gorp 13 ; G Van Isterdael 14
; Saeys, Y 9 ; Lamkanfi, M 13 ; Schelstraete, P 15 ; Dehoorne, J 16 ; Bordon, V 15 ; R Van Coster 3 ; Lambrecht, B N 17 ; Menten, B 18 ; Beyaert, R 5
; Vinuesa, C G 2 ; Heissmeyer, V 4 ; Dullaers, M 19
; Haerynck, F 6
1 Primary Immune Deficiency Research Lab, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; VIB Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium
2 Department of Immunology and Infectious Disease and Center for Personalised Immunology (NHMRC Centre for Research Excellence), John Curtin School of Medical Research, Australian National University, Canberra, Australia; Centre for Personalised Immunology (CACPI), Shanghai Renji Hospital, Shanghai Jiao Tong University, Shanghai, China
3 Department of Internal Medicine and Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium
4 Institute for Immunology, Biomedical Center, Ludwig-Maximilians-Universität München, Planegg-Martinsried, Germany; Research Unit Molecular Immune Regulation, Helmholtz Zentrum München, Munich, Germany
5 VIB Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium
6 Primary Immune Deficiency Research Lab, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Department of Internal Medicine and Pediatrics, Division of Pediatric Immunology and Pulmonology, Ghent University Hospital, Ghent, Belgium
7 Primary Immune Deficiency Research Lab, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Department of Internal Medicine and Pediatrics, Ghent University Hospital, Ghent, Belgium
8 Primary Immune Deficiency Research Lab, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
9 VIB Center for Inflammation Research, Unit of Data Mining and Modeling for Biomedicine, Ghent, Belgium; Department of Applied Mathematics, Computer Science and Statistics, Ghent University, Gent, Belgium
10 VIB Bioimaging Core, VIB Center for Inflammation Research, Ghent, Belgium
11 Department of Immunology and Infectious Disease and Center for Personalised Immunology (NHMRC Centre for Research Excellence), John Curtin School of Medical Research, Australian National University, Canberra, Australia
12 The Australian Phenomics Facility, John Curtin School of Medical Research, Australian National University, Canberra, Australia
13 Department of Internal Medicine and Pediatrics, Ghent University Hospital, Ghent, Belgium; VIB Center for Inflammation Research, Ghent, Belgium
14 Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium; VIB Flow Core, VIB Center for Inflammation Research, Ghent, Belgium
15 Department of Internal Medicine and Pediatrics, Division of Pediatric Immunology and Pulmonology, Ghent University Hospital, Ghent, Belgium
16 Department of Internal Medicine and Pediatrics, Division of Pediatric Rheumatology, Ghent University Hospital, Ghent, Belgium
17 Department of Internal Medicine and Pediatrics, Division of Pulmonology, Ghent University Hospital, Ghent, Belgium; VIB Center for Inflammation Research, Unit for Immunoregulation and Mucosal Immunology, Ghent, Belgium; Department of Pulmonary Medicine, ErasmusMC, Rotterdam, The Netherlands
18 Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
19 Primary Immune Deficiency Research Lab, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Ablynx, a Sanofi Company, Zwijnaarde, Belgium
; Bogaert, D J 6 ; Naesens, L 7 ; De Bruyne, M 8
; S Van Gassen 9 ; Parthoens, E 10 ; Ellyard, J 11 ; Cappello, J 11 ; Morris, L X 12 ; H Van Gorp 13 ; G Van Isterdael 14
; Saeys, Y 9 ; Lamkanfi, M 13 ; Schelstraete, P 15 ; Dehoorne, J 16 ; Bordon, V 15 ; R Van Coster 3 ; Lambrecht, B N 17 ; Menten, B 18 ; Beyaert, R 5
; Vinuesa, C G 2 ; Heissmeyer, V 4 ; Dullaers, M 19
; Haerynck, F 6 1 Primary Immune Deficiency Research Lab, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; VIB Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium
2 Department of Immunology and Infectious Disease and Center for Personalised Immunology (NHMRC Centre for Research Excellence), John Curtin School of Medical Research, Australian National University, Canberra, Australia; Centre for Personalised Immunology (CACPI), Shanghai Renji Hospital, Shanghai Jiao Tong University, Shanghai, China
3 Department of Internal Medicine and Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium
4 Institute for Immunology, Biomedical Center, Ludwig-Maximilians-Universität München, Planegg-Martinsried, Germany; Research Unit Molecular Immune Regulation, Helmholtz Zentrum München, Munich, Germany
5 VIB Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium
6 Primary Immune Deficiency Research Lab, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Department of Internal Medicine and Pediatrics, Division of Pediatric Immunology and Pulmonology, Ghent University Hospital, Ghent, Belgium
7 Primary Immune Deficiency Research Lab, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Department of Internal Medicine and Pediatrics, Ghent University Hospital, Ghent, Belgium
8 Primary Immune Deficiency Research Lab, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
9 VIB Center for Inflammation Research, Unit of Data Mining and Modeling for Biomedicine, Ghent, Belgium; Department of Applied Mathematics, Computer Science and Statistics, Ghent University, Gent, Belgium
10 VIB Bioimaging Core, VIB Center for Inflammation Research, Ghent, Belgium
11 Department of Immunology and Infectious Disease and Center for Personalised Immunology (NHMRC Centre for Research Excellence), John Curtin School of Medical Research, Australian National University, Canberra, Australia
12 The Australian Phenomics Facility, John Curtin School of Medical Research, Australian National University, Canberra, Australia
13 Department of Internal Medicine and Pediatrics, Ghent University Hospital, Ghent, Belgium; VIB Center for Inflammation Research, Ghent, Belgium
14 Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium; VIB Flow Core, VIB Center for Inflammation Research, Ghent, Belgium
15 Department of Internal Medicine and Pediatrics, Division of Pediatric Immunology and Pulmonology, Ghent University Hospital, Ghent, Belgium
16 Department of Internal Medicine and Pediatrics, Division of Pediatric Rheumatology, Ghent University Hospital, Ghent, Belgium
17 Department of Internal Medicine and Pediatrics, Division of Pulmonology, Ghent University Hospital, Ghent, Belgium; VIB Center for Inflammation Research, Unit for Immunoregulation and Mucosal Immunology, Ghent, Belgium; Department of Pulmonary Medicine, ErasmusMC, Rotterdam, The Netherlands
18 Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
19 Primary Immune Deficiency Research Lab, Department of Internal Medicine and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Ablynx, a Sanofi Company, Zwijnaarde, Belgium
Pages
1-16
Publication year
2019
Publication date
Oct 2019
e-ISSN
20411723
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2307385947
Copyright
© 2019. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.