Nature Communications (Oct 2019)
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation
- S. J. Tavernier,
- V. Athanasopoulos,
- P. Verloo,
- G. Behrens,
- J. Staal,
- D. J. Bogaert,
- L. Naesens,
- M. De Bruyne,
- S. Van Gassen,
- E. Parthoens,
- J. Ellyard,
- J. Cappello,
- L. X. Morris,
- H. Van Gorp,
- G. Van Isterdael,
- Y. Saeys,
- M. Lamkanfi,
- P. Schelstraete,
- J. Dehoorne,
- V. Bordon,
- R. Van Coster,
- B. N. Lambrecht,
- B. Menten,
- R. Beyaert,
- C. G. Vinuesa,
- V. Heissmeyer,
- M. Dullaers,
- F. Haerynck
Affiliations
- S. J. Tavernier
- 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
- V. Athanasopoulos
- 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
- P. Verloo
- Department of Internal Medicine and Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital
- G. Behrens
- Institute for Immunology, Biomedical Center, Ludwig-Maximilians-Universität München
- J. Staal
- VIB Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation
- D. J. Bogaert
- 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
- L. Naesens
- 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
- M. De Bruyne
- 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
- S. Van Gassen
- VIB Center for Inflammation Research, Unit of Data Mining and Modeling for Biomedicine
- E. Parthoens
- VIB Bioimaging Core, VIB Center for Inflammation Research
- J. Ellyard
- 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
- J. Cappello
- 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
- L. X. Morris
- The Australian Phenomics Facility, John Curtin School of Medical Research, Australian National University
- H. Van Gorp
- Department of Internal Medicine and Pediatrics, Ghent University Hospital
- G. Van Isterdael
- Department of Biomedical Molecular Biology, Ghent University
- Y. Saeys
- VIB Center for Inflammation Research, Unit of Data Mining and Modeling for Biomedicine
- M. Lamkanfi
- Department of Internal Medicine and Pediatrics, Ghent University Hospital
- P. Schelstraete
- Department of Internal Medicine and Pediatrics, Division of Pediatric Immunology and Pulmonology, Ghent University Hospital
- J. Dehoorne
- Department of Internal Medicine and Pediatrics, Division of Pediatric Rheumatology, Ghent University Hospital
- V. Bordon
- Department of Internal Medicine and Pediatrics, Division of Pediatric Immunology and Pulmonology, Ghent University Hospital
- R. Van Coster
- Department of Internal Medicine and Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital
- B. N. Lambrecht
- Department of Internal Medicine and Pediatrics, Division of Pulmonology, Ghent University Hospital
- B. Menten
- Center for Medical Genetics, Ghent University Hospital
- R. Beyaert
- VIB Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation
- C. G. Vinuesa
- 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
- V. Heissmeyer
- Institute for Immunology, Biomedical Center, Ludwig-Maximilians-Universität München
- M. Dullaers
- 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
- F. Haerynck
- 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
- DOI
- https://doi.org/10.1038/s41467-019-12704-6
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 16
Abstract
Roquin-1 is a posttranscriptional regulator that controls the expression of many immune-related genes such as ICOS and TNFA. Here, the authors report a homozygous R688* loss of function mutation in Roquin-1 in a patient with syndromic uncontrolled hyperinflammation associated with immune cell activation and hypercytokinemia.
