Immunome project consortium for AutoInflammatory Disorders

Deliverables

Completion of a first version of the plan for the management of data to be collected, generated and processed by the project

Publications

Structural basis of human IL-18 sequestration by the decoy receptor IL-18 binding protein (IL-18BP) in inflammation and tumor immunity

Author(s): Detry S., Andries J., Bloch Y., Gabay C., Clancy D.M., Savvides S.N.
Published in: Journal of Biological Chemistry (2022);101908., 2022, ISSN 0021-9258
Publisher: American Society for Biochemistry and Molecular Biology Inc.
DOI: 10.1016/j.jbc.2022.101908

A computational workflow for the detection of candidate diagnostic biomarkers of Kawasaki disease using time-series gene expression data

Author(s): Vasileios C. Pezoulas; Costas Papaloukas; Maëva Veyssiere; Andreas V. Goules; Athanasios G. Tzioufas; Vassili Soumelis; Dimitrios I. Fotiadis
Published in: Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 3058-3068 (2021), Issue 1, 2021, ISSN 2001-0370
Publisher: Elsevier
DOI: 10.1016/j.csbj.2021.05.036

Fast and furious: The neutrophil and its armamentarium in health and disease

Author(s): Mieke Metzemaekers; Bert Malengier‐Devlies; Mieke Gouwy; Lien De Somer; Fernando de Queiroz Cunha; Ghislain Opdenakker; Paul Proost
Published in: MEDICINAL RESEARCH REVIEWS, Issue 12, 2023, ISSN 1098-1128
Publisher: Wiley
DOI: 10.1002/med.21958

Neurodegenerative Disease and the NLRP3 Inflammasome

Author(s): Jonathan A. Holbrook, Heledd H. Jarosz-Griffiths, Emily Caseley, Samuel Lara-Reyna, James A. Poulter, Caroline H. Williams-Gray, Daniel Peckham, Michael F. McDermott
Published in: Frontiers in Pharmacology, Issue 12, 2021, ISSN 1663-9812
Publisher: Frontiers Media S.A.
DOI: 10.3389/fphar.2021.643254

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

Author(s): James A Poulter, Jason Charles Collins, Catherine Cargo, Ruth M de Tute, Paul Evans, Daniela Ospina Cardona, David T Bowen, Joanna R Cunnington, Elaine Baguley, Mark Quinn, Michael Green, Dennis McGonagle, David B Beck, Achim Werner, Sinisa Savic
Published in: Blood, 2021, ISSN 0006-4971
Publisher: American Society of Hematology
DOI: 10.1182/blood.2020010286

From ELISA to Immunosorbent Tandem Mass Spectrometry Proteoform Analysis: The Example of CXCL8/Interleukin-8

Author(s): Mieke Metzemaekers, Sara Abouelasrar Salama, Jennifer Vandooren, Anneleen Mortier, Rik Janssens, Sofie Vandendriessche, Eva Ganseman, Erik Martens, Mieke Gouwy, Barbara Neerinckx, Patrick Verschueren, Lien De Somer, Carine Wouters, Sofie Struyf, Ghislain Opdenakker, Jo Van Damme, Paul Proost
Published in: Frontiers in Immunology, Issue 12, 2021, ISSN 1664-3224
Publisher: Frontiers in
DOI: 10.3389/fimmu.2021.644725

Moving towards a systems-based classification of innate immune-mediated diseases

Author(s): Sinisa Savic, Emily A. Caseley, Michael F. McDermott
Published in: Nature Reviews Rheumatology, Issue 16/4, 2020, Page(s) 222-237, ISSN 1759-4790
Publisher: Nature Publishing Group
DOI: 10.1038/s41584-020-0377-5

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation

Author(s): Elma El Khouri; Farah Diab; Camille Louvrier; Eman Assrawi; Aphrodite Daskalopoulou; Alexandre Nguyen; William Piterboth; Samuel Deshayes; Alexandra Desdoits; Bruno Copin; Florence Dastot Le Moal; Sonia Athina Karabina; Serge Amselem; Achille Aouba; Irina Giurgea
Published in: eLife, Vol 12 (2023), Issue 12, 2023, ISSN 2050-084X
Publisher: eLife Sciences Publications
DOI: 10.7554/elife.81280

Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation

Author(s): Daria chirita; Flora Magnotti; Pauiine Bronnec; Sarah Dalmon; Amandine Martin; michel Popoff; Mathieu Gerfaud-Valentin; Pascal Seve; Alexandre Belot; Anne Contis; Agnes Duquesne; gaetane nocturne; Irene lemelle; Sophie Georgin-Lavialle; Guilaine Boursier; Isabelle Touitou; Yvan Jamilloux; Thomas Henry
Published in: Cell Death and Disease, Vol 14, Iss 3, Pp 1-13 (2023), Issue 16, 2023, ISSN 2041-4889
Publisher: Nature Publishing Group
DOI: 10.1038/s41419-023-05745-9

Phenotypical and Functional Characterization of Neutrophils in Two Pyrin-Associated Auto-inflammatory Diseases

Author(s): Bert Malengier-Devlies, Mieke Metzemaekers, Mieke Gouwy, Erika Van Nieuwenhove, Albrecht Betrains, Maaike Cockx, Lotte Vanbrabant, Noëmie Pörtner, Jurgen Vercauteren, Lien De Somer, Sofie Struyf, Steven Vanderschueren, Ellen De Langhe, Paul Proost, Patrick Matthys, Carine Wouters
Published in: Journal of Clinical Immunology, 2021, ISSN 0271-9142
Publisher: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-021-01008-4

Increased IL‐10‐producing regulatory T cells are characteristic of severe cases of COVID‐19

Author(s): Julika Neumann, Teresa Prezzemolo, Lore Vanderbeke, Carlos P Roca, Margaux Gerbaux, Silke Janssens, Mathijs Willemsen, Oliver Burton, Pierre Van Mol, Yannick Van Herck, Joost Wauters, Els Wauters, Adrian Liston, Stephanie Humblet‐Baron, Francesca Bosisio, Frederik De Smet, Christophe Dooms, Abhishek Garg, Jan Gunst, Greet Hermans, Diether Lambrechts, Natalie Lorent, Kim Martinod, Patrick Matthys
Published in: Clinical & Translational Immunology, Issue 9/11, 2020, ISSN 2050-0068
Publisher: John Wiley & Sons Australia, Ltd
DOI: 10.1002/cti2.1204

Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor

Author(s): Flora Magnotti, Tiphaine Malsot, Sophie Georgin-lavialle, Fatima Abbas, Amandine Martin, Alexandre Belot, Maxime Fauter, Muriel Rabilloud, Mathieu Gerfaud-Valentin, Pascal Sève, Agnes Duquesne, Arnaud Hot, Stephane Durupt, Léa Savey, Irina Giurgea, Gilles Grateau, Thomas Henry, Yvan Jamilloux
Published in: Annals of the Rheumatic Diseases, Issue 80/1, 2020, Page(s) 128-132, ISSN 0003-4967
Publisher: BMJ Publishing Group
DOI: 10.1136/annrheumdis-2020-218366

Steroid hormone catabolites activate the pyrin inflammasome through a non-canonical mechanism.

Author(s): Flora Magnotti, Daria Chirita, Sarah Dalmon, Amandine Martin, Pauline Bronnec, Jeremy Sousa, Olivier Helynck, Wonyong Lee, Daniel L. Kastner, Jae Jin Chae, Michael F. McDermott, Alexandre Belot, Michel Popoff, Pascal Sève, Sophie Georgin-Lavialle, Hélène Munier-Lehmann, Tu Anh Tran, Ellen De Langhe, Carine Wouters, Yvan Jamilloux, Thomas Henry
Published in: Cell Reports, 2022, Oct 11, 41, 2022, ISSN 2211-1247
Publisher: Cell Press
DOI: 10.1016/j.celrep.2022.111472

An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7.

Author(s): Emily A. Caseley; Samuel Lara-Reyna; James A. Poulter; Joanne Topping; Clive Carter; Fatima Nadat; Gavin P. Spickett; Sinisa Savic; Sinisa Savic; Michael F. McDermott
Published in: Journal of Clinical Immunology, Issue 7, 2022, ISSN 1573-2592
Publisher: Springer New York
DOI: 10.1007/s10875-021-01161-w

Discrimination of COVID‐19 from inflammation‐induced cytokine storm syndromes by disease‐related blood biomarkers

Author(s): Christoph Kessel, Richard Vollenberg, Katja Masjosthusmann, Claas Hinze, Helmut Wittkowski, France Debaugnies, Carole Nagant, Francis Corazza, Frédéric Vély, Gilles Kaplanski, Charlotte Girard‐Guyonvarc’h, Cem Gabay, Hartmut Schmidt, Dirk Foell, Phil‐Robin Tepasse
Published in: Arthritis & Rheumatology, 2021, ISSN 2326-5191
Publisher: John Wiley & Sons
DOI: 10.1002/art.41763

Novel method to quantify peptidylarginine deiminase activity shows distinct citrullination patterns in rheumatoid and juvenile idiopathic arthritis

Author(s): Karen Yu; Luna Dillemans; Mieke Gouwy; Helena Bessa; Mieke Metzemaekers; Erik Martens; Patrick Matthys; Xavier Bossuyt; Patrick Verschueren; Carine Wouters; Lien De Somer; Paul Proost
Published in: Frontiers in Immunology, Vol 14 (2023), Issue 11, 2023, ISSN 1664-3224
Publisher: Lausanne Frontiers Media S.A
DOI: 10.3389/fimmu.2023.1111465

A novel RELA truncating mutation in familial Behçet’s Disease‐like mucocutaneous ulcerative condition.

Author(s): Fahd Adeeb; Emma R. Dorris; Niamh E. Morgan; Niamh E. Morgan; Dylan Lawless; Aqeel Maqsood; Wan Lin Ng; Orla G Killeen; Eoin P. Cummins; Cormac T. Taylor; Sinisa Savic; Anthony G. Wilson; Alexander Fraser; Alexander Fraser
Published in: Arthritis & Rheumatology, Issue 11, 2021, ISSN 2326-5205
Publisher: John Wiley & Sons, Inc.
DOI: 10.1002/art.41531

An Immunological Axis Involving Interleukin 1β and Leucine-Rich-α2-Glycoprotein Reflects Therapeutic Response of Children with Kawasaki Disease: Implications from the KAWAKINRA Trial

Author(s): Christoph Kessel; Isabelle Kone-Paut; Stephanie Tellier; Alexandre Belot; Katja Masjosthusmann; Helmut Wittkowski; Sabrina Fuehner; Linda Rossi-Semerano; Perrine Dusser; Isabelle Marie; Nadja Boukhedouni; Helène Agostini; Céline Piedvache; Dirk Foell
Published in: Journal of Clinical Immunology, Issue 42, 2022, Page(s) 1330-1341, ISSN 1573-2592
Publisher: Springer New York
DOI: 10.1007/s10875-022-01301-w

Neutrophil chemoattractant receptors in health and disease: double-edged swords

Author(s): Mieke Metzemaekers, Mieke Gouwy, Paul Proost
Published in: Cellular & Molecular Immunology, Issue 17/5, 2020, Page(s) 433-450, ISSN 1672-7681
Publisher: Nature Publishing Group
DOI: 10.1038/s41423-020-0412-0

A Cross Entropy Test Allows Quantitative Statistical Comparison of t-SNE and UMAP Representations

Author(s): Roca1, Carlos P.; Burton, Oliver T.; Neumann, Julika; Tareen, Samar; Whyte, Carly E.; Humblet-Baron, Stéphanie; Liston, Adrian
Published in: Cell Reports Methods, Issue 25, 2023, ISSN 2667-2375
Publisher: Cell Press Elsevier Inc.
DOI: 10.2139/ssrn.4189024

Definition and validation of serum biomarkers for optimal differentiation of hyperferritinemic cytokine storm conditions in children: a multi-centre retrospective cohort study

Author(s): Christoph Kessel, Ndate Fall, Alexei Grom, Wilco de Jager, Sebastiaan Vastert, Raffaele Strippoli, Claudia Bracaglia, Erik Sundberg, AnnaCarin Horne, Stephan Ehl, Sandra Ammann, Carine Wouters, Kai Lehmberg, Fabrizio De Benedetti, Carolin Park, Claas Hinze, Helmut Wittkowski, Katharina Kessel, Karin Beutel, Dirk Foell, Dirk Holzinger
Published in: Lancet Rheumatol, 2021, Page(s) e563-e573, ISSN 2665-9913
Publisher: Lancet Publishing Group
DOI: 10.1016/s2665-9913(21)00115-6

Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia

Author(s): Erika Van Nieuwenhove, John S. Barber, Julika Neumann, Elien Smeets, Mathijs Willemsen, Emanuela Pasciuto, Teresa Prezzemolo, Vasiliki Lagou, Laura Seldeslachts, Bert Malengier-Devlies, Mieke Metzemaekers, Sarah Haßdenteufel, Axelle Kerstens, Rob van der Kant, Frederic Rousseau, Joost Schymkowitz, Daniele Di Marino, Sven Lang, Richard Zimmermann, Susan Schlenner, Sebastian Munck, Paul Proost, Pat
Published in: Journal of Allergy and Clinical Immunology, Issue 146/5, 2020, Page(s) 1180-1193, ISSN 0091-6749
Publisher: Mosby Inc.
DOI: 10.1016/j.jaci.2020.03.034

Stratification of hospitalized COVID-19 patients into clinical severity progression groups by immuno-phenotyping and machine learning

Author(s): "Mueller, Yvonne M.; Schrama, Thijs J.; Rik, Ruijten; Schreurs, Marco W. J.; Grashof, Dwin G. B.; van de Werken, Harmen J. G.; Jona Lasinio, Giovanna; Daniel, Á lvarez-Sierra; Kiernan, Caoimhe H.; Castro Eiro, Melisa D.; Marjan van Meurs,; Inge, Brouwers-Haspels; Manzhi, Zhao; Ling, Li; Harm de Wit,; Ouzounis, Christos A.; Wilmsen, Merel E. P.; Alofs, Tessa M.; Laport, Danique A.; Tamara van W"
Published in: Nature Communications, Issue 7, 2022, Page(s) 915, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-022-28621-0

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Author(s): Julius Rönkkö, Svetlana Molchanova, Anya Revah‐Politi, Elaine M. Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet‐Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B. Harms, Henna Tyynismaa, Emil Ylikallio
Published in: Annals of Clinical and Translational Neurology, Issue 7/10, 2020, Page(s) 1962-1972, ISSN 2328-9503
Publisher: John Wiley & Sons
DOI: 10.1002/acn3.51190

Phenotypic analysis of pyrin-associated autoinflammation with neutrophilic dermatosis patients during treatment

Author(s): Erika Van Nieuwenhove, Ellen De Langhe, James Dooley, Joost Van Den Oord, Mohammad Shahrooei, Nima Parvaneh, Vahid Ziaee, Sinisa Savic, Mark Kacar, Xavier Bossuyt, Stephanie Humblet-Baron, Adrian Liston, Carine Wouters
Published in: Rheumatology, 2021, ISSN 1462-0324
Publisher: Oxford University Press
DOI: 10.1093/rheumatology/keab221

Endogenous modification of the chemoattractant CXCL5 alters receptor usage and enhances its activity toward neutrophils and monocytes

Author(s): Mieke Metzemaekers, Anneleen Mortier, Alessandro Vacchini, Daiane Boff, Karen Yu, Rik Janssens, Floriana M. Farina, Samantha Milanesi, Nele Berghmans, Noëmie Pörtner, Jo Van Damme, Marcello Allegretti, Mauro M. Teixeira, Massimo Locati, Elena M. Borroni, Flavio A. Amaral, Paul Proost
Published in: Science Signaling, Issue 14/673, 2021, Page(s) eaax3053, ISSN 1937-9145
Publisher: American Association for the Advancement of Science
DOI: 10.1126/scisignal.aax3053

Synovial Fluid Neutrophils From Patients With Juvenile Idiopathic Arthritis Display a Hyperactivated Phenotype

Author(s): Mieke Metzemaekers, Bert Malengier‐Devlies, Karen Yu, Sofie Vandendriessche, Jonas Yserbyt, Patrick Matthys, Lien De Somer, Carine Wouters, Paul Proost
Published in: Arthritis & Rheumatology, Issue 73/5, 2021, Page(s) 875-884, ISSN 2326-5191
Publisher: john wiley & sons
DOI: 10.1002/art.41605

Natural killer cells in Multiple Sclerosis: Entering the stage.

Author(s): Jarne Beliën, An Goris and Patrick Matthys.
Published in: Frontiers in Immunology:06 April 2022, volume 13, 2022, ISSN 1664-3224
Publisher: Frontiers Media S.A.
DOI: 10.3389/fimmu.2022.869447

Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients

Author(s): Flora Magnotti, Lucie Lefeuvre, Sarah Benezech, Tiphaine Malsot, Louis Waeckel, Amandine Martin, Sébastien Kerever, Daria Chirita, Marine Desjonqueres, Agnès Duquesne, Mathieu Gerfaud‐Valentin, Audrey Laurent, Pascal Sève, Michel‐Robert Popoff, Thierry Walzer, Alexandre Belot, Yvan Jamilloux, Thomas Henry
Published in: EMBO Molecular Medicine, Issue 11/11, 2019, ISSN 1757-4676
Publisher: John Wiley & Sons Ltd.
DOI: 10.15252/emmm.201910547

Synergistic TLR/IFNα/β-Signaling Facilitates Escape of IL-18 Expression from Endotoxin Tolerance

Author(s): Emely Verweyen, Dirk Holzinger, Toni Weinhage, Claas Hinze, Helmut Wittkowski, Peter Pickkers, Sabrin Albeituni, Katherine Verbist, Kim E Nichols, Grant Schulert, Alexei Grom, Dirk Foell, Christoph Kessel
Published in: American Journal of Respiratory and Critical Care Medicine, 2019, ISSN 1073-449X
Publisher: American Thoracic Society
DOI: 10.1164/rccm.201903-0659oc

Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease

Author(s): Samuel Lara-Reyna, James A. Poulter, Elton J.R. Vasconcelos, Mark Kacar, Michael F. McDermott, Reuben Tooze, Rainer Doffinger, Sinisa Savic
Published in: Journal of Clinical Immunology, Issue 41/2, 2021, Page(s) 441-457, ISSN 0271-9142
Publisher: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-020-00932-1

De novo gain‐of‐function variations in LYN lead to an early onset systemic autoinflammatory disorder

Author(s): Louvrier, Camille; El Khouri, Elma; Grall Lerosey, Martine; Quartier, Pierre; Guerrot, Anne‐marie; Bader Meunier, Brigitte; Chican, Julie; Mohammad, Malaïka; Assrawi, Eman; Daskalopoulou, Aphrodite; Arenas Garcia, Angela; Copin, Bruno; Piterboth, William; Dastot Le Moal, Florence; Karabina, Sonia, A; Amselem, Serge; Giurgea, Irina
Published in: Arthritis & rheumatology, Issue 17, 2023, ISSN 2326-5191
Publisher: Wyley and Sons
DOI: 10.1002/art.42354

Gene–Dose Effect of MEFV Gain-of-Function Mutations Determines ex vivo Neutrophil Activation in Familial Mediterranean Fever

Author(s): Iris Stoler, Judith Freytag, Banu Orak, Nadine Unterwalder, Stephan Henning, Katrin Heim, Horst von Bernuth, Renate Krüger, Stefan Winkler, Patience Eschenhagen, Eva Seipelt, Marcus A. Mall, Dirk Foell, Christoph Kessel, Helmut Wittkowski, Tilmann Kallinich
Published in: Frontiers in Immunology, Issue 11, 2020, ISSN 1664-3224
Publisher: Frontiers in
DOI: 10.3389/fimmu.2020.00716

Inflammasome inhibition under physiological and pharmacological conditions

Author(s): Emily A. Caseley, James A. Poulter, François Rodrigues, Michael F. McDermott
Published in: Genes & Immunity, Issue 21/4, 2020, Page(s) 211-223, ISSN 1466-4879
Publisher: Nature Publishing Group
DOI: 10.1038/s41435-020-0104-x

Evidence of B Cell Clonality and Investigation Into Properties of the IgM in Patients With Schnitzler Syndrome

Author(s): Shelly Pathak, Dorota Rowczenio, Samuel Lara-Reyna, Mark Kacar, Roger Owen, Gina Doody, Karoline Krause, Helen Lachmann, Rainer Doffinger, Darren Newton, Sinisa Savic
Published in: Frontiers in Immunology, Issue 11, 2020, ISSN 1664-3224
Publisher: Frontiers
DOI: 10.3389/fimmu.2020.569006

RNF213-associated urticarial lesions with hypercytokinemia

Author(s): Louvrier C, Awad F, Cosnes A, El Khouri E, Assrawi E, Daskalopoulou A, Copin B, Bocquet H, Chantot Bastaraud S, Arenas Garcia A, Dastot Le Moal F, De La Grange P, Duquesnoy P, Guerrera CI, Piterboth W, Ortonne N, Chosidow O, Karabina SA, Amselem S, Giurgea I.
Published in: J Allergy Clin Immunol2022 Jun 30;S0091-6749(22)00888-0, 2022, ISSN 0091-6749
Publisher: Mosby Inc.
DOI: 10.1016/j.jaci.2022.06.016

Structural basis of activation and antagonism of receptor signaling mediated by interleukin-27

Author(s): Katarzyna Skladanowska,Yehudi Bloch,Jamie Strand, Kerry F. White, Jing Hua,Daniel Aldridge, Martin Welin, Derek T. Logan, Arne Soete, Romain Merceron,Casey Murphy, Mathias Provost, J. Fernando Bazan, Christopher A. Hunter,Jonathan A. Hill and Savvas N. Savvides.
Published in: Cell Reports 41, 111490 (2022), 2022, ISSN 2211-1247
Publisher: Cell Press
DOI: 10.1016/j.celrep.2022.111490

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