Immunome project consortium for AutoInflammatory Disorders

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Risultati finali

Data management plan

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

Omics ORPD

A set of omics data as ORPD

Final data management plan

Finalisation of the last version of the data management plan

Pubblicazioni

Homozygous DBF4 mutation as a cause of severe congenital neutropenia

Autori: Mathijs Willemsen, John S. Barber, Erika Van Nieuwenhove, Frederik Staels, Margaux Gerbaux, Julika Neumann, Teresa Prezzemolo, Emanuela Pasciuto, Vasiliki Lagou, Nancy Boeckx, Jessica Filtjens, Amber De Visscher, Patrick Matthys, Rik Schrijvers, Thomas Tousseyn, Mark O’Driscoll, Giorgia Bucciol, Susan Schlenner, Isabelle Meyts, Stephanie Humblet-Baron, Adrian Liston
Pubblicato in: Journal of Allergy and Clinical Immunology, Numero 152, 2023, Pagina/e 266-277, ISSN 0091-6749
Editore: Mosby Inc.
DOI: 10.1016/j.jaci.2023.02.016

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

Autori: Detry S., Andries J., Bloch Y., Gabay C., Clancy D.M., Savvides S.N.
Pubblicato in: Journal of Biological Chemistry (2022);101908., 2022, ISSN 0021-9258
Editore: 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

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

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

Autori: Mieke Metzemaekers; Bert Malengier‐Devlies; Mieke Gouwy; Lien De Somer; Fernando de Queiroz Cunha; Ghislain Opdenakker; Paul Proost
Pubblicato in: MEDICINAL RESEARCH REVIEWS, Numero 12, 2023, ISSN 1098-1128
Editore: Wiley
DOI: 10.1002/med.21958

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations

Autori: Camille Louvrier (1, 2) , Eman Assrawi (1) , Elma El Khouri (1) , Isabelle Melki (3) , Bruno Copin (2, 1) , Emmanuelle Bourrat (3) , Noémie Lachaume (3) , Bérengère Cador-Rousseau (4) , Philippe Duquesnoy (1) , William Piterboth (2) , Fawaz Awad (1) , Claire Jumeau (1) , Marie Legendre (1, 2) , Gilles Grateau (1, 5) , Sophie Georgin-Lavialle (1, 5) , Sonia Karabina (1) , Serge Amselem (1, 2) ,
Pubblicato in: Journal of Allergy and Clinical Immunology, 2020, ISSN 0091-6749
Editore: Mosby Inc.
DOI: 10.1016/j.jaci.2019.11.035

Neurodegenerative Disease and the NLRP3 Inflammasome

Autori: Jonathan A. Holbrook, Heledd H. Jarosz-Griffiths, Emily Caseley, Samuel Lara-Reyna, James A. Poulter, Caroline H. Williams-Gray, Daniel Peckham, Michael F. McDermott
Pubblicato in: Frontiers in Pharmacology, Numero 12, 2021, ISSN 1663-9812
Editore: Frontiers Media S.A.
DOI: 10.3389/fphar.2021.643254

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome

Autori: 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
Pubblicato in: Blood, 2021, ISSN 0006-4971
Editore: American Society of Hematology
DOI: 10.1182/blood.2020010286

Phagocytic cell death leads to enhanced release of pro-inflammatory S100A12 in familial Mediterranean fever

Autori: G. Varga, S. Schleifenbaum,1 U. Koenig,2 J. Waldkirch,1 C. Hinze,1 C. Kessel,1 W. Geluk,1 T. Pap,2 Elke Lainka,4 Tilmann Kallinich,3 D. Foell,1 and H. Wittkowski1
Pubblicato in: Molecular and Cellular Pediatrics, 2023, ISSN 2194-7791
Editore: Springer
DOI: 10.1186/s40348-023-00173-3

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

Autori: 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
Pubblicato in: Frontiers in Immunology, Numero 12, 2021, ISSN 1664-3224
Editore: Frontiers in
DOI: 10.3389/fimmu.2021.644725

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

Autori: Sinisa Savic, Emily A. Caseley, Michael F. McDermott
Pubblicato in: Nature Reviews Rheumatology, Numero 16/4, 2020, Pagina/e 222-237, ISSN 1759-4790
Editore: Nature Publishing Group
DOI: 10.1038/s41584-020-0377-5

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

Autori: 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
Pubblicato in: eLife, Vol 12 (2023), Numero 12, 2023, ISSN 2050-084X
Editore: eLife Sciences Publications
DOI: 10.7554/elife.81280

Insights into peptidylarginine deiminase expression and citrullination pathways

Autori: Karen Yu, Paul Proost
Pubblicato in: Trends Cell Biology, 2022, ISSN 1879-3088
Editore: Elsevier BV
DOI: 10.1016/j.tcb.2022.01.014

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

Autori: 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
Pubblicato in: Cell Death and Disease, Vol 14, Iss 3, Pp 1-13 (2023), Numero 16, 2023, ISSN 2041-4889
Editore: Nature Publishing Group
DOI: 10.1038/s41419-023-05745-9

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

Autori: 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
Pubblicato in: Journal of Clinical Immunology, 2021, ISSN 0271-9142
Editore: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-021-01008-4

IL-1RA Antibodies in Myocarditis after SARS-CoV-2 Vaccination.

Autori: Lorenz Thurner 1 , Christoph Kessel 2 , Natalie Fadle 3 , Evi Regitz 3 , Franziska Seidel 4 , Ingrid Kindermann 3 , Stefan Lohse 3 , Igor Kos 3 , Carsten Tschöpe 5 , Parastoo Kheiroddin 6 , Daniel Kiblboeck 7 , Marie-Christin Hoffmann 3 , Birgit Bette 3 , Gabi Carbon 3 , Onur Cetin 3 , Klaus-Dieter Preuss 3 , Konstantinos Christofyllakis 3 , Joerg T Bittenbring 3 , Thomas Pickar
Pubblicato in: New England Journal of Medicine, 2022, ISSN 1533-4406
Editore: NEJM Group
DOI: 10.1056/nejmc2205667

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

Autori: 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
Pubblicato in: Clinical & Translational Immunology, Numero 9/11, 2020, ISSN 2050-0068
Editore: John Wiley & Sons Australia, Ltd
DOI: 10.1002/cti2.1204

Autoantibodies against interleukin-1 receptor antagonist in multisystem inflammatory syndrome in children: a multicentre, retrospective, cohort study

Autori: Jochen Pfeifer, MD * Bernhard Thurner, MD * Christoph Kessel, PhD * Natalie Fadle Parastoo Kheiroddin, MSc Evi Regitz Marie-Christin Hoffmann Igor Age Kos, MD Klaus-Dieter Preuss, PhD Yvan Fischer, PhD Prof Klaus Roemer, PhD Stefan Lohse, PhD Kristina Heyne, PhD Marie-Claire Detemple, MD Michael Fedlmeier, MD Hendrik Juenger, MD Haral
Pubblicato in: Lancet rheumatology, 2022, ISSN 2665-9913
Editore: Elsevier BV
DOI: 10.1016/s2665-9913(22)00064-9

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

Autori: 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
Pubblicato in: Annals of the Rheumatic Diseases, Numero 80/1, 2020, Pagina/e 128-132, ISSN 0003-4967
Editore: BMJ Publishing Group
DOI: 10.1136/annrheumdis-2020-218366

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

Autori: 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
Pubblicato in: Cell Reports, 2022, Oct 11, 41, 2022, ISSN 2211-1247
Editore: Cell Press
DOI: 10.1016/j.celrep.2022.111472

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

Autori: 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
Pubblicato in: Journal of Clinical Immunology, Numero 7, 2022, ISSN 1573-2592
Editore: 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

Autori: 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
Pubblicato in: Arthritis & Rheumatology, 2021, ISSN 2326-5191
Editore: 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

Autori: 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
Pubblicato in: Frontiers in Immunology, Vol 14 (2023), Numero 11, 2023, ISSN 1664-3224
Editore: 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.

Autori: 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
Pubblicato in: Arthritis & Rheumatology, Numero 11, 2021, ISSN 2326-5205
Editore: 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

Autori: 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
Pubblicato in: Journal of Clinical Immunology, Numero 42, 2022, Pagina/e 1330-1341, ISSN 1573-2592
Editore: Springer New York
DOI: 10.1007/s10875-022-01301-w

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

Autori: Mieke Metzemaekers, Mieke Gouwy, Paul Proost
Pubblicato in: Cellular & Molecular Immunology, Numero 17/5, 2020, Pagina/e 433-450, ISSN 1672-7681
Editore: Nature Publishing Group
DOI: 10.1038/s41423-020-0412-0

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

Autori: Roca1, Carlos P.; Burton, Oliver T.; Neumann, Julika; Tareen, Samar; Whyte, Carly E.; Humblet-Baron, Stéphanie; Liston, Adrian
Pubblicato in: Cell Reports Methods, Numero 25, 2023, ISSN 2667-2375
Editore: Cell Press Elsevier Inc.
DOI: 10.2139/ssrn.4189024

A mathematical model of Familial Mediterranean Fever predicts mechanisms controlling inflammation

Autori: Maëva Veyssiere, Sara Sadat Aghamiri, Arturo Hernandez Cervantes, Thomas Henry, Vassili Soumelis
Pubblicato in: Clinical Immunology, Numero 257, 2024, Pagina/e 109839, ISSN 1521-6616
Editore: Academic Press
DOI: 10.1016/j.clim.2023.109839

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

Autori: 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
Pubblicato in: Lancet Rheumatol, 2021, Pagina/e e563-e573, ISSN 2665-9913
Editore: Lancet Publishing Group
DOI: 10.1016/s2665-9913(21)00115-6

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

Autori: 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
Pubblicato in: Journal of Allergy and Clinical Immunology, Numero 146/5, 2020, Pagina/e 1180-1193, ISSN 0091-6749
Editore: 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

Autori: "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"
Pubblicato in: Nature Communications, Numero 7, 2022, Pagina/e 915, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-022-28621-0

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Autori: 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
Pubblicato in: Annals of Clinical and Translational Neurology, Numero 7/10, 2020, Pagina/e 1962-1972, ISSN 2328-9503
Editore: John Wiley & Sons
DOI: 10.1002/acn3.51190

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

Autori: 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
Pubblicato in: Rheumatology, 2021, ISSN 1462-0324
Editore: 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

Autori: 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
Pubblicato in: Science Signaling, Numero 14/673, 2021, Pagina/e eaax3053, ISSN 1937-9145
Editore: 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

Autori: Mieke Metzemaekers, Bert Malengier‐Devlies, Karen Yu, Sofie Vandendriessche, Jonas Yserbyt, Patrick Matthys, Lien De Somer, Carine Wouters, Paul Proost
Pubblicato in: Arthritis & Rheumatology, Numero 73/5, 2021, Pagina/e 875-884, ISSN 2326-5191
Editore: john wiley & sons
DOI: 10.1002/art.41605

Natural killer cells in Multiple Sclerosis: Entering the stage.

Autori: Jarne Beliën, An Goris and Patrick Matthys.
Pubblicato in: Frontiers in Immunology:06 April 2022, volume 13, 2022, ISSN 1664-3224
Editore: Frontiers Media S.A.
DOI: 10.3389/fimmu.2022.869447

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

Autori: 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
Pubblicato in: EMBO Molecular Medicine, Numero 11/11, 2019, ISSN 1757-4676
Editore: John Wiley & Sons Ltd.
DOI: 10.15252/emmm.201910547

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

Autori: 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
Pubblicato in: American Journal of Respiratory and Critical Care Medicine, 2019, ISSN 1073-449X
Editore: American Thoracic Society
DOI: 10.1164/rccm.201903-0659oc

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

Autori: Samuel Lara-Reyna, James A. Poulter, Elton J.R. Vasconcelos, Mark Kacar, Michael F. McDermott, Reuben Tooze, Rainer Doffinger, Sinisa Savic
Pubblicato in: Journal of Clinical Immunology, Numero 41/2, 2021, Pagina/e 441-457, ISSN 0271-9142
Editore: 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

Autori: 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
Pubblicato in: Arthritis & rheumatology, Numero 17, 2023, ISSN 2326-5191
Editore: 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

Autori: 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
Pubblicato in: Frontiers in Immunology, Numero 11, 2020, ISSN 1664-3224
Editore: Frontiers in
DOI: 10.3389/fimmu.2020.00716

Inflammasome inhibition under physiological and pharmacological conditions

Autori: Emily A. Caseley, James A. Poulter, François Rodrigues, Michael F. McDermott
Pubblicato in: Genes & Immunity, Numero 21/4, 2020, Pagina/e 211-223, ISSN 1466-4879
Editore: Nature Publishing Group
DOI: 10.1038/s41435-020-0104-x

Characterization of genetic landscape and novel inflammatory biomarkers in patients with adult‐onset Still's disease

Autori: Joanne Topping, Leon Chang, Fatima Nadat, James A Poulter, Alice Ibbotson, Samuel Lara‐Reyna, Christopher M Watson, Clive Carter, Linda P Pournara, Jan Zernicke, Rebecca L. Ross, Catherine Cargo, Paul A. Lyons, Kenneth G.C. Smith, Francesco Del Galdo, Jürgen Rech, Bruno Fautrel, Eugen Feist, Michael F. McDermott, Sinisa Savic, null null
Pubblicato in: Arthritis & Rheumatology, 2024, ISSN 2326-5191
Editore: John Wiley & Sons, Inc
DOI: 10.1002/art.43054

3D clustering of gene expression data from systemic autoinflammatory diseases using self-organizing maps (Clust3D)

Autori: Orestis D. Papagiannopoulos, Vasileios C. Pezoulas, Costas Papaloukas, Dimitrios I. Fotiadis
Pubblicato in: Computational and Structural Biotechnology Journal, Numero 23, 2024, Pagina/e 2152-2162, ISSN 2001-0370
Editore: Elsevier BV
DOI: 10.1016/j.csbj.2024.05.003

Bioinformatic meta-analysis reveals novel differentially expressed genes and pathways in sarcoidosis

Autori: Rogier T. A. van Wijck, Hari S. Sharma, Sigrid M. A. Swagemakers, Willem A. Dik, Hanna IJspeert, Virgil A. S. H. Dalm, Paul L. A. van Daele, P. Martin van Hagen, Peter J. van der Spek
Pubblicato in: Frontiers in Medicine, Numero 11, 2024, ISSN 2296-858X
Editore: Frontiers Media S.A
DOI: 10.3389/fmed.2024.1381031

CTLA-4 Pathway Is Instrumental in Giant Cell Arteritis

Autori: Paul Régnier, Alexandre Le Joncour, Anna Maciejewski-Duval, Guillaume Darrasse-Jèze, Charles Dolladille, Wouter C. Meijers, Lisa Bastarache, Pierre Fouret, Patrick Bruneval, Floriane Arbaretaz, Célia Sayetta, Ana Márquez, Michelle Rosenzwajg, David Klatzmann, Patrice Cacoub, Javid J. Moslehi, Joe-Elie Salem and David Saadoun
Pubblicato in: Circulation Research, 2023, ISSN 0009-7330
Editore: Lippincott Williams & Wilkins Ltd.
DOI: 10.1161/circresaha.122.322330

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

Autori: Shelly Pathak, Dorota Rowczenio, Samuel Lara-Reyna, Mark Kacar, Roger Owen, Gina Doody, Karoline Krause, Helen Lachmann, Rainer Doffinger, Darren Newton, Sinisa Savic
Pubblicato in: Frontiers in Immunology, Numero 11, 2020, ISSN 1664-3224
Editore: Frontiers
DOI: 10.3389/fimmu.2020.569006

RNF213-associated urticarial lesions with hypercytokinemia

Autori: 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.
Pubblicato in: J Allergy Clin Immunol2022 Jun 30;S0091-6749(22)00888-0, 2022, ISSN 0091-6749
Editore: Mosby Inc.
DOI: 10.1016/j.jaci.2022.06.016

Inflammatory profile of lower risk myelodysplastic syndromes

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Pubblicato in: British Journal of Haematology, Numero 205, 2024, Pagina/e 1044-1054, ISSN 0007-1048
Editore: Blackwell Publishing Inc.
DOI: 10.1111/bjh.19530

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

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Pubblicato in: Cell Reports 41, 111490 (2022), 2022, ISSN 2211-1247
Editore: Cell Press
DOI: 10.1016/j.celrep.2022.111490

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