Charting key molecules and mechanisms of human immune Dysregulation

Informazioni relative al progetto

iDysChart

ID dell’accordo di sovvenzione: 820074

DOI

10.3030/820074

Progetto chiuso

Data della firma CE 20 Marzo 2019

Data di avvio 1 Giugno 2019

Data di completamento 31 Maggio 2025

Finanziato da

• EXCELLENT SCIENCE - European Research Council (ERC)

Costo totale

€ 1 999 263,00

Contributo UE

€ 1 999 263,00

Coordinato da

ST. ANNA KINDERKREBSFORSCHUNG GMBH
Austria

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 .

Pubblicazioni

Peer reviewed articles (17)

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

Autori: Jana Block, Christina Rashkova, Irinka Castanon, Samaneh Zoghi, Jessica Platon, Rico C. Ardy, Mitsuhiro Fujiwara, Beatriz Chaves, Rouven Schoppmeyer, Caspar I. van der Made, Raul Jimenez Heredia, Frederike L. Harms, Samin Alavi, Laia Alsina, Paula Sanchez Moreno, Rainiero Ávila Polo, Rocío Cabrera-Pérez, Sevgi Kostel Bal, Laurène Pfajfer, Bernhard Ransmayr, Anna-Katharina Mautner, Ryohei Kondo
Pubblicato in: New England Journal of Medicine, Numero 389, 2024, Pagina/e 527-539, ISSN 0028-4793
Editore: Massachusetts Medical Society
DOI: 10.1056/nejmoa2210054

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Autori: Sujal Ghosh, Sevgi Köstel Bal, Emily S. J. Edwards, Bethany Pillay, Raúl Jiménez Heredia, Funda Erol Cipe, Geetha Rao, Elisabeth Salzer, Samaneh Zoghi, Hassan Abolhassani, Tooba Momen, Emma Gostick, David A. Price, Yu Zhang, Andrew J. Oler, Claudia Gonzaga-Jauregui, Baran Erman, Ayse Metin, Inci Ilhan, Sule Haskologlu, Candan Islamoglu, Kubra Baskin, Serdar Ceylaner, Ebru Yilmaz, Ekrem Unal, Mu
Pubblicato in: Blood, Numero 136/23, 2020, Pagina/e 2638-2655, ISSN 0006-4971
Editore: American Society of Hematology
DOI: 10.1182/blood.2020006738

Evans syndrome caused by a deleterious mutation affecting the adaptor protein <scp>SASH3</scp>

Autori: Wolfgang Novak, Jakob Berner, Michael Svaton, Raul Jimenez‐Heredia, Anna Segarra‐Roca, Alexandra Frohne, Sarah Guiliani, David Rouhani, Sebastian K. Eder, Arno Rottal, Doris Trapin, Anja Scheuchenstuhl, Winfried F. Pickl, Ingrid Simonitsch‐Klupp, Leo Kager, Kaan Boztug
Pubblicato in: British Journal of Haematology, Numero 203, 2024, Pagina/e 678-683, ISSN 0007-1048
Editore: Blackwell Publishing Inc.
DOI: 10.1111/bjh.19061

Biallelic <i>NFATC1</i> mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis

Autori: Sevgi Kostel Bal, Sarah Giuliani, Jana Block, Peter Repiscak, Christoph Hafemeister, Tala Shahin, Nurhan Kasap, Bernhard Ransmayr, Yirun Miao, Cheryl van de Wetering, Alexandra Frohne, Raul Jimenez Heredia, Michael Schuster, Samaneh Zoghi, Vanessa Hertlein, Marini Thian, Aleksandr Bykov, Royala Babayeva, Sevgi Bilgic Eltan, Elif Karakoc-Aydiner, Lisa E. Shaw, Iftekhar Chowdhury, Markku Varjosalo,
Pubblicato in: Blood, Numero 142, 2023, Pagina/e 827-845, ISSN 0006-4971
Editore: American Society of Hematology
DOI: 10.1182/blood.2022018303

Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation

Autori: Marini Thian, Birgit Hoeger, Anton Kamnev, Fiona Poyer, Sevgi Köstel Bal, Michael Caldera, Raúl Jiménez-Heredia, Jakob Huemer, Winfried F. Pickl, Miriam Groß, Stephan Ehl, Carrie L. Lucas, Jörg Menche, Caroline Hutter, Andishe Attarbaschi, Loïc Dupré, Kaan Boztug
Pubblicato in: Haematologica, Numero 105/10, 2020, Pagina/e e488, ISSN 0390-6078
Editore: Ferrata Storti Foundation
DOI: 10.3324/haematol.2019.231399

Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency

Autori: Deniz Cagdas, Daniel Mayr, Safa Baris, Lisa Worley, David B Langley, Ayse Metin, Elif Soyak Aytekin, Raziye Atan, Nurhan Kasap, Sevgi Köstel Bal, Jasmin Dmytrus, Raul Jimenez Heredia, Gulsun Karasu, Selda Hancerli Torun, Muge Toyran, Elif Karakoc-Aydiner, Daniel Christ, Baris Kuskonmaz, Duygu Uçkan-Çetinkaya, Aysegul Uner, Felicitas Oberndorfer, Ana-Iris Schiefer, Gulbu Uzel, Elissa K Deenick,
Pubblicato in: Journal of Clinical Immunology, Numero 41(6), 2021, Pagina/e 1272-1290, ISSN 0271-9142
Editore: Kluwer Academic/Plenum Publishers
DOI: 10.1007/s10875-021-01031-5

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

Autori: Matthias Haimel, Julia Pazmandi, Raúl Jiménez Heredia, Jasmin Dmytrus, Sevgi Köstel Bal, Samaneh Zoghi, Paul van Daele, Tracy A Briggs, Carine Wouters, Brigitte Bader-Meunier, Florence A Aeschlimann, Roberta Caorsi, Despina Eleftheriou, Esther Hoppenreijs, Elisabeth Salzer, Shahrzad Bakhtiar, Beata Derfalvi, Francesco Saettini, Maaike A A Kusters, Reem Elfeky, Johannes Trück, Jacques G Rivièr
Pubblicato in: Journal of Allergy and Clinical Immunology, Numero 149(1), 2021, Pagina/e 369-378, ISSN 0091-6749
Editore: Mosby Inc.
DOI: 10.1016/j.jaci.2021.04.033

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

Autori: Jakob Berner, Cheryl van de Wetering, Raul Jimenez Heredia, Christina Rashkova, Sacha Ferdinandusse, Janet Koster, Johannes G. Weiss, Alexandra Frohne, Sarah Giuliani, Hans R. Waterham, Irinka Castanon, Jürgen Brunner, Kaan Boztug
Pubblicato in: Journal of Allergy and Clinical Immunology, Numero 152, 2024, Pagina/e 1025-1031.e2, ISSN 0091-6749
Editore: Mosby Inc.
DOI: 10.1016/j.jaci.2023.06.013

Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity

Autori: Tala Shahin, Hye Sun Kuehn, Mohamed R Shoeb, Lisa Gawriyski, Sarah Giuliani, Peter Repiscak, Birgit Hoeger, Özlem Yüce Petronczki, Sevgi Köstel Bal, Samaneh Zoghi, Jasmin Dmytrus, Davide Seruggia, Irinka Castanon, Nima Rezaei, Markku Varjosalo, Florian Halbritter, Sergio D Rosenzweig, Kaan Boztug
Pubblicato in: Science Immunology, Numero 6(65), 2021, ISSN 2470-9468
Editore: American Association for the Advancement of Science
DOI: 10.1126/sciimmunol.abe3981

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis

Autori: Artem Kalinichenko, Giovanna Perinetti Casoni, Loïc Dupré, Luca Trotta, Jakob Huemer, Donatella Galgano, Yolla German, Ben Haladik, Julia Pazmandi, Marini Thian, Özlem Yüce Petronczki, Samuel C Chiang, Mervi Taskinen, Anne Hekkala, Saila Kauppila, Outi Lindgren, Terhi Tapiainen, Michael J Kraakman, Kim Vettenranta, Alexis J Lomakin, Janna Saarela, Mikko R J Seppänen, Yenan T Bryceson, Kaan Bo
Pubblicato in: Blood, Numero 137(15), 2021, Pagina/e 2033-2045, ISSN 0006-4971
Editore: American Society of Hematology
DOI: 10.1182/blood.2020008738

Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation

Autori: Tala Shahin, Daniel Mayr, Mohamed R Shoeb, Hye Sun Kuehn, Birgit Hoeger, Sarah Giuliani, Lisa M Gawriyski, Özlem Yüce Petronczki, Jérôme Hadjadj, Sevgi Köstel Bal, Samaneh Zoghi, Matthias Haimel, Raul Jimenez Heredia, David Boutboul, Michael P Triebwasser, Fanny Rialland-Battisti, Nathalie Costedoat Chalumeau, Pierre Quartier, Stuart G Tangye, Thomas A Fleisher, Nima Rezaei, Neil Romberg, Syl
Pubblicato in: Blood Advances, Numero 6(7), 2022, Pagina/e 2444-2451, ISSN 2473-9529
Editore: American Society of Hematology
DOI: 10.1182/bloodadvances.2021006367

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

Autori: Ido Somekh, Marini Thian, David Medgyesi, Nesrin Gülez, Thomas Magg, Alejandro Gallón Duque, Tali Stauber, Atar Lev, Ferah Genel, Ekrem Unal, Amos J. Simon, Yu Nee Lee, Artem Kalinichenko, Jasmin Dmytrus, Michael J. Kraakman, Ginette Schiby, Meino Rohlfs, Jeffrey M. Jacobson, Erdener Özer, Ömer Akcal, Raffaele Conca, Türkan Patiroglu, Musa Karakukcu, Alper Ozcan, Tala Shahin, Eliana Appella,
Pubblicato in: Blood, Numero 134/18, 2019, Pagina/e 1510-1516, ISSN 0006-4971
Editore: American Society of Hematology
DOI: 10.1182/blood.2019000644

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

Autori: Lin Wang, Dominik Aschenbrenner, Zhiyang Zeng, Xiya Cao, Daniel Mayr, Meera Mehta, Melania Capitani, Neil Warner, Jie Pan, Liren Wang, Qi Li, Tao Zuo, Sarit Cohen-Kedar, Jiawei Lu, Rico Chandra Ardy, Daniel J Mulder, Dilan Dissanayake, Kaiyue Peng, Zhiheng Huang, Xiaoqin Li, Yuesheng Wang, Xiaobing Wang, Shuchao Li, Samuel Bullers, Anís N Gammage, Klaus Warnatz, Ana-Iris Schiefer, Gergely Krivan,
Pubblicato in: Nature Genetics, Numero 54(4), 2021, Pagina/e 500-510, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-021-00803-4

LTβR deficiency causes lymph node aplasia and impaired B cell differentiation

Autori: Bernhard Ransmayr, Sevgi Köstel Bal, Marini Thian, Michael Svaton, Cheryl van de Wetering, Christoph Hafemeister, Anna Segarra-Roca, Jana Block, Alexandra Frohne, Ana Krolo, Melek Yorgun Altunbas, Sevgi Bilgic-Eltan, Ayça Kıykım, Omer Aydiner, Selin Kesim, Sabahat Inanir, Elif Karakoc-Aydiner, Ahmet Ozen, Ümran Aba, Aylin Çomak, Gökçen Dilşa Tuğcu, Robert Pazdzior, Bettina Huber, Matthia
Pubblicato in: Science Immunology, Numero 9, 2024, ISSN 2470-9468
Editore: American Association for the Advancement of Science
DOI: 10.1126/sciimmunol.adq8796

AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation

Autori: Julia Guthrie, Sevgi Köstel Bal, Salvo Danilo Lombardo, Felix Müller, Celine Sin, Christiane V. R. Hütter, Jörg Menche, Kaan Boztug
Pubblicato in: Science Advances, Numero 9, 2024, ISSN 2375-2548
Editore: American Association for the Advancement of Science
DOI: 10.1126/sciadv.adg6375

The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity

Autori: Elisabeth Salzer, Samaneh Zoghi, Máté G. Kiss, Frieda Kage, Christina Rashkova, Stephanie Stahnke, Matthias Haimel, René Platzer, Michael Caldera, Rico Chandra Ardy, Birgit Hoeger, Jana Block, David Medgyesi, Celine Sin, Sepideh Shahkarami, Renate Kain, Vahid Ziaee, Peter Hammerl, Christoph Bock, Jörg Menche, Loïc Dupré, Johannes B. Huppa, Michael Sixt, Alexis Lomakin, Klemens Rottner, Chris
Pubblicato in: Science Immunology, Numero 5/49, 2020, Pagina/e eabc3979, ISSN 2470-9468
Editore: American Association for the Advancement of Science
DOI: 10.1126/sciimmunol.abc3979

The Human Phenotype Ontology in 2024: phenotypes around the world

Autori: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellan
Pubblicato in: Nucleic Acids Research, Numero 52, 2024, Pagina/e D1333-D1346, ISSN 0305-1048
Editore: Oxford University Press
DOI: 10.1093/nar/gkad1005