Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation

Author:

Masters Seth L.12,Lagou Vasiliki345,Jéru Isabelle678,Baker Paul J.12,Van Eyck Lien45,Parry David A.9,Lawless Dylan10,De Nardo Dominic12,Garcia-Perez Josselyn E.45,Dagley Laura F.1211,Holley Caroline L.12,Dooley James45,Moghaddas Fiona12,Pasciuto Emanuela45,Jeandel Pierre-Yves13,Sciot Raf1415,Lyras Dena16,Webb Andrew I.211,Nicholson Sandra E.12,De Somer Lien15,van Nieuwenhove Erika4515,Ruuth-Praz Julia78,Copin Bruno8,Cochet Emmanuelle8,Medlej-Hashim Myrna17,Megarbane Andre18,Schroder Kate12,Savic Sinisa1920,Goris An3,Amselem Serge678,Wouters Carine415,Liston Adrian45

Affiliation:

1. Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia.

2. Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia.

3. Department of Neurosciences, KU Leuven, Leuven 3000, Belgium.

4. Department of Microbiology and Immunology, KU Leuven, Leuven 3000, Belgium.

5. Translational Immunology Laboratory, VIB, Leuven 3000, Belgium.

6. INSERM, UMR S933, Paris F-75012, France.

7. Université Pierre et Marie Curie–Paris, UMR S933, Paris F-75012, France.

8. Assistance Publique Hôpitaux de Paris, Hôpital Trousseau, Service de Génétique et d’Embryologie médicales, Paris F-75012, France.

9. Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh LS7 4SA, UK.

10. Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Wellcome Trust Brenner Building, Saint James’s University Hospital, Leeds LS7 4SA, UK.

11. Systems Biology and Personalised Medicine Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.

12. Institute for Molecular Bioscience (IMB) and IMB Centre for Inflammation and Disease Research, The University of Queensland, Brisbane, Queensland 4072, Australia.

13. Département de Médecine Interne, Hôpital Archet 1, Université Nice Sophia-Antipolis, 06202 Nice, France.

14. Department of Pathology, KU Leuven, Leuven 3000, Belgium.

15. University Hospitals Leuven, Leuven 3000, Belgium.

16. Department of Microbiology, Monash University, Melbourne, Victoria 3800, Australia.

17. Department of Life and Earth Sciences, Faculty of Sciences II, Lebanese University, Beirut 1102 2801, Lebanon.

18. Al-Jawhara Center, Arabian Gulf University, Manama 26671, Bahrain.

19. Department of Allergy and Clinical Immunology, Saint James’s University Hospital, Leeds LS9 7TF, UK.

20. National Institute for Health Research–Leeds Musculoskeletal Biomedical Research Unit and Leeds Institute of Rheumatic and Musculoskeletal Medicine, Wellcome Trust Brenner Building, Saint James’s University Hospital, Beckett Street, Leeds LS9 7TF, UK.

Abstract

A mutation in pyrin that disrupts regulation leads to autoinflammatory disease.

Funder

ERC

Interuniversity Attraction Poles (T-TIME)

Research Fund KU Leuven

FWO (Research Foundation-Flanders)

Australian Research Council Future Fellowship

INSERM

GIS (Groupement d'Interet Scientifique)_Institut des Maladies Rares

Victorian State Government Operational Infrastructure Scheme

Independent Research Institute Infrastructure Support Scheme

Australian National Health and Medical Research Council

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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