Multi-omics research applied to Human ADA2 deficiency and beyond

Información del proyecto

MORE2ADA2

Identificador del acuerdo de subvención: 948959

DOI

10.3030/948959

Fecha de la firma de la CE 18 Noviembre 2020

Fecha de inicio 1 Enero 2021

Fecha de finalización 30 Junio 2026

Financiado con arreglo a

• EXCELLENT SCIENCE - European Research Council (ERC)

Coste total

€ 1 958 505,00

Aportación de la UE

€ 1 958 505,00

Coordinado por

KATHOLIEKE UNIVERSITEIT LEUVEN
Belgium

CORDIS proporciona enlaces a los documentos públicos y las publicaciones de los proyectos de los programas marco HORIZONTE.

Los enlaces a los documentos y las publicaciones de los proyectos del Séptimo Programa Marco, así como los enlaces a algunos tipos de resultados específicos, como conjuntos de datos y «software», se obtienen dinámicamente de OpenAIRE .

Publicaciones

Peer reviewed articles (14)

Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations

Autores: hasan Hashem, Dimana Dimitrova, Isabelle Meyts
Publicado en: Frontiers in Immunology, Edición 2022 Jul 7;13:932385, 2022, ISSN 1664-3224
Editor: Frontiers Media SA
DOI: 10.3389/fimmu.2022.932385

Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI

Autores: Giorgia Bucciol, Amanda K Ombrello, Eugene P Chambers, Isabelle Meyts
Publicado en: Journal of Clinical Immunology, 2023, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-023-01638-w

What a difference ADA2 makes: Insights into the pathophysiology of ADA2 deficiency from single-cell RNA sequencing of monocytes

Autores: Lisa Ehlers, Isabelle Meyts
Publicado en: Journal of Leukocyte Biology, 2021, ISSN 1938-3673
Editor: Wiley
DOI: 10.1002/jlb.5ce0421-186r

Autoantibodies neutralizing type I IFNs are present in ~ 4% of uninfected individuals over 70 years old and account for ~ 20% of COVID-19 deaths.

Autores: Bastard, Paul; Gervais, Adrian; Le Voyer, Tom; Rosain, Jérémie; Philippot, Quentin; Manry, Jérémy; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Eto, Shohei; Garcia-Prat, Marina; Bizien, Lucy; Parra-Martínez, Alba; Yang, Rui; Haljasmägi, Liis; Migaud, Mélanie; Särekannu, Karita; Maslovskaja, Julia; de Prost, Nicolas; Tandjaoui-Lambiotte, Yacine; Luyt, Charles-Edouard; Amador-Borrero,
Publicado en: VOLUME=6;ISSUE=62;ISSN=2470-9468;TITLE=Science immunology, Edición 1, 2021, ISSN 2470-9468
Editor: AAAS
DOI: 10.1126/sciimmunol.abl4340

Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency

Autores: Jin Yan Yap, Leen Moens, Ming-Wei Lin, Alisa Kane, Anthony Kelleher, Catherine Toong, Kathy H.C. Wu, William A. Sewell, Tri Giang Phan, Georgina E. Hollway, Karen Enthoven, Paul E. Gray, Jose Casas-Martin, Carine Wouters, Lien De Somer, Michael Hershfield, Giorgia Bucciol, Selket Delafontaine, Cindy S. Ma, Stuart G. Tangye, Isabelle Meyts
Publicado en: Journal of Clinical Immunology, volume 41, pages1915–1935 (2021), 2021, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-021-01141-0

Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinammatory syndrome

Autores: Selket Delafontaine, Alberto Iannuzzo, Tarin M Bigley, Bram Mylemans, Ruchit Rana, Pieter Baatsen, Maria Cecilia Poli, Daisy Rymen, Katrien Jansen, Djalila Mekahli, Ingele Casteels, Catherine Cassiman, Philippe Demaerel, Alice Lepelley, Marie-Louise Frémond, Rik Schrijvers, Xavier Bossuyt, Katlijn Vints, Wim Huybrechts, Rachida Tacine, Karen Willekens, Anniek Corveleyn, Bram Boeckx, Marco Baggio,
Publicado en: Journal of Clinical Investigation, 2024, ISSN 0021-9738
Editor: American Society for Clinical Investigation
DOI: 10.1172/jci163604

ADA2 Deficiency Mimicking Acute Disseminated Encephalomyelitis

Autores: Lisa Ehlers, Giorgia Bucciol, Leen Moens, Anneleen Hombrouck, Selket Delafontaine, Benson Ogunjimi, Matthias De Wachter, Diane Beysen, Isabelle Meyts
Publicado en: Journal of Clinical Immunology, Edición 43(3), 2022, Página(s) 536-539, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-022-01413-3

Inhibition of lysosomal degradation increases expression of mutant ADA2 in DADA2 monocytes

Autores: Lisa Ehlers, Marjon Wouters, Bethany Pillay, Selket Delafontaine, Mariia Dzhus, Marco Baggio, Tim Niehues, Gregor Dückers, Lieve Sevenants, Kristina Casteels, Lien De Somer, Rik Schrijvers, Steven Vanderschueren, Maarten Jacquemyn, Dirk Daelemans, Anneleen Hombrouck, Eugene P. Chambers, Thomas Tousseyn, Giorgia Bucciol, Patrizia Agostinis, Leen Moens, Isabelle Meyts
Publicado en: Journal of Allergy and Clinical Immunology, 2025, ISSN 0091-6749
Editor: Mosby Inc.
DOI: 10.1016/j.jaci.2025.06.009

Evaluation and Management of Deficiency of Adenosine Deaminase 2An International Consensus Statement

Autores: Pui Y. Lee, Brad A. Davidson, Roshini S. Abraham, Blanche Alter, Juan I. Arostegui, Katherine Bell, Alexandre Belot, Jenna R. E. Bergerson, Timothy J. Bernard, Paul A. Brogan, Yackov Berkun, Natalie T. Deuitch, Dimana Dimitrova, Sophie A. Georgin-Lavialle, Marco Gattorno, Bodo Grimbacher, Hasan Hashem, Michael S. Hershfield, Rebecca N. Ichord, Kazushi Izawa, Jennifer A. Kanakry, Raju P. Khubchanda
Publicado en: JAMA Network Open, 2023, ISSN 2574-3805
Editor: Chicago, IL : American Medical Association
DOI: 10.1001/jamanetworkopen.2023.15894

report on 30 patients

Autores: Hasan Hashem; Giorgia Bucciol; Seza Ozen; Sule Unal; İkbal Ok Bozkaya; Nurten A. Akarsu; Mervi Taskinen; Minna Koskenvuo; Janna Saarela; Janna Saarela; Dimana Dimitrova; Dennis D. Hickstein; Amy P. Hsu; Steven M. Holland; Robert A. Krance; Ghadir S. Sasa; Ashish R Kumar; Ashish R Kumar; Ingo Müller; Monica Abreu de Sousa; Selket Delafontaine; Leen Moens; Florian Babor; Federica Barzaghi; Maria P
Publicado en: Journal of clinical immunology, vol. 41, no. 7, pp. 1633-1647, Edición 1, 2021, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-021-01098-0

A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency

Autores: Mariia Dzhus, Lisa Ehlers, Marjon Wouters, Katrien Jansen, Rik Schrijvers, Lien De Somer, Steven Vanderschueren, Marco Baggio, Leen Moens, Benjamin Verhaaren, Rik Lories, Giorgia Bucciol, Isabelle Meyts
Publicado en: Journal of Clinical Immunology, 2023, ISSN 0271-9142
Editor: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-023-01555-y

Dominant negative <i>ADA2</i> mutations cause ADA2 deficiency in heterozygous carriers

Autores: Marjon Wouters, Lisa Ehlers, Wout Van Eynde, Meltem Ece Kars, Selket Delafontaine, Verena Kienapfel, Mariia Dzhus, Rik Schrijvers, Petra De Haes, Sofie Struyf, Giorgia Bucciol, Yuval Itan, Alexandre Bolze, Arnout Voet, Anneleen Hombrouck, Leen Moens, Benson Ogunjimi, Isabelle Meyts
Publicado en: Journal of Experimental Medicine, Edición 222, 2025, ISSN 0022-1007
Editor: Rockefeller University Press
DOI: 10.1084/jem.20250499

Getting to know adenosine deaminase 2 deficiency inside and out

Autores: Lisa Ehlers, Isabelle Meyts
Publicado en: Journal of Allergy and Clinical Immunology, Edición 155, 2025, Página(s) 1451-1463, ISSN 0091-6749
Editor: Mosby Inc.
DOI: 10.1016/j.jaci.2025.01.040

Human ADA2 Deficiency: Ten Years Later

Autores: Marjon Wouters, Lisa Ehlers, Mariia Dzhus, Verena Kienapfel, Giorgia Bucciol, Selket Delafontaine, Anneleen Hombrouck, Bethany Pillay, Leen Moens, Isabelle Meyts
Publicado en: Current Allergy and Asthma Reports, Edición 24, 2024, Página(s) 477-484, ISSN 1529-7322
Editor: Current Science Inc.
DOI: 10.1007/s11882-024-01163-9

Other (2)

Dominant negative<i>ADA2</i>mutations cause ADA2 deficiency in heterozygous carriers

Autores: Marjon Wouters, Lisa Ehlers, Wout Van Eynde, Meltem Ece Kars, Selket Delafontaine, Verena Kienapfel, Mariia Dzhus, Rik Schrijvers, Petra De Haes, Sofie Struyf, Giorgia Bucciol, Yuval Itan, Alexandre Bolze, Arnout Voet, Anneleen Hombrouck, Leen Moens, Benson Ogunjimi, Isabelle Meyts
Publicado en: MedRxiv, 2024
Editor: Cold Spring Harbor Laboratory
DOI: 10.1101/2024.12.09.24317629

Human ADA2 deficiency is characterized by the absence of an intracellular hypoglycosylated form of adenosine deaminase 2

Autores: Lisa Ehlers, Anneleen Hombrouck, Marjon Wouters, Bethany Pillay, Selket Delafontaine, Giorgia Bucciol, Marco Baggio, Mariia Dzhus, Frédéric Ebstein, Maarten Jacquemyn, Lien De Somer, Rik Schrijvers, Steven Vanderschueren, David Cassiman, Marieluise Kirchner, Philipp Mertins, Tilmann Kallinich, Dirk Daelemans, Patrizia Agostinis, Leen Moens, Isabelle Meyts
Publicado en: BioRXIV, 2023
Editor: Cold Spring Harbor Laboratory
DOI: 10.1101/2023.10.25.564037