GAIN - German genetic multi-organ Auto-Immunity Network
What are multi-organ autoimmune diseases?
Multi-organ autoimmune diseases belong to the “ultra-rare” disorders. In this case, the body’s own immune system mistakenly attacks its own organs. Affected individuals then develop inflammation of several organs, for example the bone marrow, intestines, lungs, kidneys, skin and nervous system. Due to the rarity and complexity of the disease patterns, it often takes a long time before the correct diagnosis is made.
Single genes and monogenetic mutations have already been discovered as the cause of this group of diseases. These and other findings also help to improve the understanding and treatment for more common polygenic autoimmune diseases.
Joint Research in the GAIN network
In the GAIN research network, experts at various German locations are working together to research the causes and therapies of genetic multi-organ autoimmune diseases. The Federal Ministry of Education and Research (BMBF) has been funding the network since 2019.
In order to facilitate diagnosis and counseling of affected individuals and their families and to improve treatment, the individual research teams are looking into the underlying molecular and cellular pathomechanisms of individual diseases as well as possible molecular interventions as a therapeutic option. In this context, already known but also new genetic causes of disease are analyzed comprehensively. Samples from a biomaterial bank are already available to the researchers for their work. Another focus is on the development of a uniform approach to the identification, diagnosis and treatment of multi-organ autoimmune diseases.
Available data are systematically collected in a patient registry. Through this registry, patients could be recruited for a companion clinical trial investigating the safety and efficacy of the immune-modulatory drug Abatacept in a first funding period (2019-2022). In the second funding period (2023-2025), the quality of life of patients will now be investigated with questionnaires and patient involvement in order to better address their everyday problems.
Experts of GAIN are actively involved in the European Reference Network on Rare Primary Immunodeficiency, AuToinflammatory and Autoimmune diseases (ERN-RITA).
Projects-
- Registry of the German multi-organ Auto-Immunity Network (GAIN-registry):
- Prof. Dr. med. Ulrich Baumann, Medizinische Hochschule Hannover (MHH), Dr. med. Dipl. Ing. Gerhard Kindle and Prof. Dr. rer. nat. Alexandra Nieters, Medical Center – University of Freiburg.
- Consortial Biobank for patients with Inborn Errors of Multi-Organ Autoimmune Diseases: Prof. Dr. rer. nat. Thomas Illig, Hannover Medical School.
- CTLA4 insufficiency: Prof. Dr. med. Bodo Grimbacher, Medical Center – University of Freiburg.
- Immune dysregulation due to NFKB1 defects: Prof. Dr. med. Klaus Warnatz, Medical Center – University of Freiburg.
- Immune dysregulation due to mutations in RELA: Prof. Dr. med. Min Ae Lee-Kirsch, University Hospital Carl Gustav Carus, Dresden University of Technology.
- The role of activating mutations in CARD11 on the immune system: Prof. Dr. med. Dr. sci. nat. Fabian Hauck, LMU Klinikum Munich.
- STAT3 gain-of-function (GOF) associated disease: Prof. Dr. med. Stephan Ehl, Medical Center – University of Freiburg.
- Identification of epigenetic factors in multi-organ autoimmunity: Dr. rer. nat. Faranaz Atschekzei, Hannover Medical School.
- Qualy-GAIN – an epidemiological study on the quality of life of GAIN patients: Prof. Dr. Erik Farin-Glattacker, Medical Center – University of Freiburg and Prof. Dr. med. Jochen Schmitt, University Hospital Carl Gustav Carus, Technical University Dresden
Completed Projects of the first funding period
- Initial description of human DGKζ –deficiency: PD Dr. med. Dr. sci. nat. Fabian Hauck, Medical Center of the University of Munich.
- The role of GARP in monogenic traits of multi-organ autoimmunity: PD Dr. Alla Skapenko and Prof. Dr. med. Hendrik Schulze-Koops, Medical Center of the University of Munich.
- Monogenetic immune dysregulation syndromes and their effect on the plasma cell compartment: Prof. Dr. med. Bimba Franziska Hoyer and Prof. Dr. med. Philip Rosenstiel, University Hospital Schleswig-Holstein Kiel and Prof. Dr. rer. nat. Andreas Radbruch, Charité Berlin.
- Safety and Efficacy of abatacept (s.c.) in patients with CTLA4 insufficiency and LRBA deficiency (ABACHAI): Prof. Dr. med. Bodo Grimbacher, Medical Center – University of Freiburg.
Prof. Dr. med Bodo Grimbacher
Medical Center – University of Freiburg
Institute for Immunodeficiency,
Breisacher Str. 115
79106 Freiburg i. Br.
Phone +49 761 27077-732
Email: bodo.grimbacher@uniklinik.freiburg.de
Website: www.g-a-i-n.de
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1. September 2024 (GAIN)
Novel hypermorphic variants in IRF2BP2 identified in patients with common variable immunodeficiency and autoimmunityClin Immunol. 2024 Sep. >>Pubmed-Link<<
Manfred Anim, Georgios Sogkas, Nadezhda Camacho-Ordonez, Gunnar Schmidt, Abdulwahab Elsayed, Michele Proietti, Torsten Witte, Bodo Grimbacher, Faranaz Atschekzei
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1. August 2024 (GAIN)
OTULIN-related conditions: Report of a new case and review of the literature using GenIAClin Immunol. 2024 Aug. >>Pubmed-Link<<
Andrés Caballero-Oteyza, Laura Crisponi, Xiao P Peng, Hongying Wang, Pavla Mrovecova, Stefania Olla, Chiara Siguri, Farida Marnissi, Zineb Jouhadi, Ivona Aksentijevich, Bodo Grimbacher, Michele Proietti
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23. July 2024 (GAIN)
A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigmBlood Adv. 2024 Jul 23. >>Pubmed-Link<<
Katarina Zmajkovicova, Sumit Pawar, Svetlana O Sharapova, Christoph B Geier, Ivana Wiest, Chi Nguyen, Halenya Monticelli, Sabine Maier-Munsa, Kelly Chen, John W Sleasman, Svetlana Aleshkevich, Ekaterina Polyakova, Inga Sakovich, Klaus Warnatz, Bodo Grimbacher, Michele Proietti, Neal Sondheimer, Boglarka Ujhazi, Sumai Gordon, Maryssa Ellison, Melis Yilmaz, Jolan E Walter, Adriana Badarau, Arthur G Taveras, Jadee L Neff, Jacob R Bledsoe, Teresa K Tarrant
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16. April 2024 (GAIN)
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitisCell Rep Med. 2024 Apr 16. >>PubMed-Link<<
Katariina Nurmi, Kristiina Silventoinen, Salla Keskitalo, Kristiina Rajamäki, Vesa-Petteri Kouri, Matias Kinnunen, Sami Jalil, Rocio Maldonado, Kirmo Wartiovaara, Elma Inés Nievas, Silvina Paola Denita-Juárez, Christopher J A Duncan, Outi Kuismin, Janna Saarela, Inka Romo, Timi Martelius, Jukka Parantainen, Arzu Beklen, Marcelina Bilicka, Sampsa Matikainen, Dan C Nordström, Meri Kaustio, Ulla Wartiovaara-Kautto, Outi Kilpivaara, Christoph Klein, Fabian Hauck, Tiina Jahkola, Timo Hautala, Markku Varjosalo, Goncalo Barreto, Mikko R J Seppänen, Kari K Eklund
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1. March 2024 (GAIN)
Multilayer concept of autoimmune mechanisms and manifestations in inborn errors of immunity: Relevance for precision therapyJ Allergy Clin Immunol. 2024 Mar. >>PubMed-Link<<
Markus G Seidel, Fabian Hauck
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1. March 2024 (GAIN)
Aberrant RNA sensing in regulatory T cells causes systemic autoimmunitySci Adv. 2024 Mar. >>Pubmed-Link<<
Domnica Luca, Sumin Lee, Keiji Hirota, Yasutaka Okabe, Junji Uehori, Kazushi Izawa, Anna-Lisa Lanz, Verena Schütte, Burcu Sivri, Yuta Tsukamoto, Fabian Hauck, Rayk Behrendt, Axel Roers, Takashi Fujita, Ryuta Nishikomori, Min Ae Lee-Kirsch, Hiroki Kato
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20. February 2024 (GAIN)
Activation of gp130 signaling in T cells drives TH17-mediated multi-organ autoimmunitySci Signal. 2024 Feb 20. >>PubMed-Link<<
Francis Baumgartner, Stefanos A Bamopoulos, Laura Faletti, Hsiang-Jung Hsiao, Maximilian Holz, Irene Gonzalez-Menendez, Llorenç Solé-Boldo, Arik Horne, Sanket Gosavi, Ceren Özerdem, Nikita Singh, Sven Liebig, Senthilkumar Ramamoorthy, Malte Lehmann, Uta Demel, Anja A Kühl, Tim Wartewig, Jürgen Ruland, Frank T Wunderlich, Markus Schick, Wolfgang Walther, Stefan Rose-John, Simon Haas, Leticia Quintanilla-Martinez, Stefan Feske, Stephan Ehl, Rainer Glauben, Ulrich Keller
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11. January 2024 (GAIN)
Disrupted degradative sorting of TLR7 is associated with human lupusSci Immunol. 2024 Jan 11. >>PubMed-Link<<
Harshita Mishra, Claire Schlack-Leigers, Ee Lyn Lim, Oliver Thieck, Thomas Magg, Johannes Raedler, Christine Wolf, Christoph Klein, Helge Ewers, Min Ae Lee-Kirsch, David Meierhofer, Fabian Hauck, Olivia Majer
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11. January 2024 (GAIN)
UNC93B1 variants underlie TLR7-dependent autoimmunitySci Immunol. 2024 Jan 11. >>PubMed-Link<<
Christine Wolf, Ee Lyn Lim, Mohammad Mokhtari, Barbara Kind, Alexandru Odainic, Eusebia Lara-Villacanas, Sarah Koss, Simon Mages, Katharina Menzel, Kerstin Engel, Gregor Dückers, Benedikt Bernbeck, Dominik T Schneider, Kathrin Siepermann, Tim Niehues, Carl Christoph Goetzke, Pawel Durek, Kirsten Minden, Thomas Dörner, Anna Stittrich, Franziska Szelinski, Gabriela Maria Guerra, Mona Massoud, Markus Bieringer, Carina C de Oliveira Mann, Eduardo Beltrán, Tilmann Kallinich, Mir-Farzin Mashreghi, Susanne V Schmidt, Eicke Latz, Johanna Klughammer, Olivia Majer, Min Ae Lee-Kirsch
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1. January 2024 (GAIN)
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variantsJ Allergy Clin Immunol. 2024 Jan. >>PubMed-Link<<
Kathleen Baysac, Guangping Sun, Hiroto Nakano, Elizabeth G Schmitz, Anthony C Cruz, Charles Fisher, Alexis C Bailey; PLCG2-Immune Dysregulation Working Group; Emily Mace, Joshua D Milner, Michael J Ombrello
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1. January 2024 (GAIN)
Hypogammaglobulinemia and immune dysregulation-not just 2 sides of a coinJ Allergy Clin Immunol. 2024 Jan. >>PubMed-Link<<
Gulbu Uzel, Baerbel Keller, Klaus Warnatz
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13. December 2023 (GAIN)
Research on Rare Diseases in Germany – The GAIN Registry: a registry for individuals with congenital multi-organ autoimmune diseasesJ Health Monit. 2023 Dec 13. >>PubMed-Link<<
Deutsche Fassung: Forschung zu Seltenen Erkrankungen in Deutschland – Das GAIN-Register: Ein Register für Personen mit angeborenen Multi-Organ-Autoimmunerkrankungen
Cynthia Stapornwongkul, Alexandra Nieters, Paulina Staus, Stephan Rusch, Anita Delor, Ulrich Baumann, Julius Wehrle, Melanie Boerries, Markus G Seidel, Bodo Grimbacher, Gerhard Kindle
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7. December 2023 (GAIN)
Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in PEPDRMD Open. 2023 Dec 7. >>PubMed-Link<<
Faranaz Atschekzei, Mykola Fedchenko, Abdulwahab Elsayed, Natalia Dubrowinskaja, Theresa Graalmann, Felix C Ringshausen, Torsten Witte, Georgios Sogkas
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8. November 2023 (GAIN)
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiencyNature. 2023 Nov. >>PubMed-Link<<
Tom Le Voyer, Audrey V Parent, Xian Liu, Axel Cederholm, Adrian Gervais, Jérémie Rosain, Tina Nguyen, Malena Perez Lorenzo, Elze Rackaityte, Darawan Rinchai, Peng Zhang, Lucy Bizien, Gonca Hancioglu, Pascale Ghillani-Dalbin, Jean-Luc Charuel, Quentin Philippot, Mame Sokhna Gueye, Majistor Raj Luxman Maglorius Renkilaraj, Masato Ogish, Camille Soudée, Mélanie Migaud, Flore Rozenberg, Mana Momenilandi, Quentin Riller, Luisa Imberti, Ottavia M Delmonte, Gabriele Müller, Baerbel Keller, Julio Orrego, William Alexander Franco Gallego, Tamar Rubin, Melike Emiroglu, Nima Parvaneh, Daniel Eriksson, Maribel Aranda-Guillen, David I Berrios, Linda Vong, Constance H Katelaris, Peter Mustillo, Johannes Raedler, Jonathan Bohlen, Jale Bengi Celik, Camila Astudillo, Sarah Winter; NF-κB Consortium; COVID Human Genetic Effort; Catriona McLean, Aurélien Guffroy, Joseph L DeRisi, David Yu, Corey Miller, Yi Feng, Audrey Guichard, Vivien Béziat, Jacinta Bustamante, Qiang Pan-Hammarström, Yu Zhang, Lindsey B Rosen, Steve M Holland, Marita Bosticardo, Heather Kenney, Riccardo Castagnoli, Charlotte A Slade, Kaan Boztuğ, Nizar Mahlaoui, Sylvain Latour, Roshini S Abraham, Vassilios Lougaris, Fabian Hauck, Anna Sediva, Faranaz Atschekzei, Georgios Sogkas, M Cecilia Poli, Mary A Slatter, Boaz Palterer, Michael D Keller, Alberto Pinzon-Charry, Anna Sullivan, Luke Droney, Daniel Suan, Melanie Wong, Alisa Kane, Hannah Hu, Cindy Ma, Hana Grombiříková, Peter Ciznar, Ilan Dalal, Nathalie Aladjidi, Miguel Hie, Estibaliz Lazaro, Jose Franco, Sevgi Keles, Marion Malphettes, Marlene Pasquet, Maria Elena Maccari, Andrea Meinhardt, Aydan Ikinciogullari, Mohammad Shahrooei, Fatih Celmeli, Patrick Frosk, Christopher C Goodnow, Paul E Gray, Alexandre Belot, Hye Sun Kuehn, Sergio D Rosenzweig, Makoto Miyara, Francesco Licciardi, Amélie Servettaz, Vincent Barlogis, Guillaume Le Guenno, Vera-Maria Herrmann, Taco Kuijpers, Grégoire Ducoux, Françoise Sarrot-Reynauld, Catharina Schuetz, Charlotte Cunningham-Rundles, Frédéric Rieux-Laucat, Stuart G Tangye, Cristina Sobacchi, Rainer Doffinger, Klaus Warnatz, Bodo Grimbacher, Claire Fieschi, Laureline Berteloot, Vanessa L Bryant, Sophie Trouillet Assant, Helen Su, Benedicte Neven, Laurent Abel, Qian Zhang, Bertrand Boisson, Aurélie Cobat, Emmanuelle Jouanguy, Olle Kampe, Paul Bastard, Chaim M Roifman, Nils Landegren, Luigi D Notarangelo, Mark S Anderson, Jean-Laurent Casanova, Anne Puel
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8. November 2023 (GAIN)
Telomere biology disorders may manifest as common variable immunodeficiency (CVID)Clin Immunol. 2023 Nov 8. >>PubMed-Link<<
Benjamin Rolles, Andres Caballero-Oteyza, Michele Proietti, Sigune Goldacker, Klaus Warnatz, Nadezhda Camacho-Ordonez, Seraina Prader, Jana Pachlopnik Schmid, Margherita Vieri, Susanne Isfort, Robert Meyer, Martin Kirschner, Tim H Brümmendorf, Fabian Beier, Bodo Grimbacher
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5. November 2023 (GAIN)
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective studyJ Allergy Clin Immunol. 2024 Jan. Epub 2023 Nov 5. >>PubMed-Link<<
Marco Fischer, Peter Olbrich, Jérôme Hadjadj, Volker Aumann, Shahrzad Bakhtiar, Vincent Barlogis, Philipp von Bismarck, Markéta Bloomfield, Claire Booth, Emmeline P Buddingh, Deniz Cagdas, Martin Castelle, Alice Y Chan, Shanmuganathan Chandrakasan, Kritika Chetty, Pierre Cougoul, Etienne Crickx, Jasmeen Dara, Angela Deyà-Martínez, Susan Farmand, Renata Formankova, Andrew R Gennery, Luis Ignacio Gonzalez-Granado, David Hagin, Leif Gunnar Hanitsch, Jana Hanzlikovà, Fabian Hauck, José Ivorra-Cortés, Kai Kisand, Ayca Kiykim, Julia Körholz, Timothy Ronan Leahy, Joris van Montfrans, Zohreh Nademi, Brigitte Nelken, Suhag Parikh, Silvi Plado, Jan Ramakers, Antje Redlich, Frédéric Rieux-Laucat, Jacques G Rivière, Yulia Rodina, Pérsio Roxo Júnior, Sarah Salou, Catharina Schuetz, Anna Shcherbina, Mary A Slatter, Fabien Touzot, Ekrem Unal, Arjan C Lankester, Siobhan Burns, Mikko R J Seppänen, Olaf Neth, Michael H Albert, Stephan Ehl, Bénédicte Neven, Carsten Speckmann
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1. November 2023 (GAIN)
Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)Clin Immunol. 2023 Nov. >>PubMed-Link<<
Xiao P Peng, Moudjahed Saleh Al-Ddafari, Andres Caballero-Oteyza, Chahrazed El Mezouar, Pavla Mrovecova, Saad Eddin Dib, Zoheir Massen, Mohammed Chems-Eddine Smahi, Alddafari Faiza, Rafik Terki Hassaïne, Gérard Lefranc, Mourad Aribi, Bodo Grimbacher
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3. October 2023 (GAIN)
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standardsNat Rev Gastroenterol Hepatol. 2023 Oct 3. >>PubMed-Link<<
Holm H Uhlig, Claire Booth, Judy Cho, Marla Dubinsky, Anne M Griffiths, Bodo Grimbacher, Sophie Hambleton, Ying Huang, Kelsey Jones, Jochen Kammermeier, Hirokazu Kanegane, Sibylle Koletzko, Daniel Kotlarz, Christoph Klein, Michael J Lenardo, Bernice Lo, Dermot P B McGovern, Ahmet Özen, Lissy de Ridder, Frank Ruemmele, Dror S Shouval, Scott B Snapper, Simon P Travis, Dan Turner, David C Wilson , Aleixo M Muise
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1. October 2023 (GAIN)
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunityJ Allergy Clin Immunol. 2023 Oct. >>PubMed-Link<<
Maria Elena Maccari, Martin Wolkewitz, Charlotte Schwab, Tiziana Lorenzini Jennifer W Leiding, Nathalie Aladjdi, Hassan Abolhassani, Wadih Abou-Chahla, Alessandro Aiuti, Saba Azarnoush, Safa Baris, Vincent Barlogis, Federica Barzaghi, Ulrich Baumann, Marketa Bloomfield, Nadezda Bohynikova, Damien Bodet, David Boutboul, Giorgia Bucciol, Matthew S Buckland, Siobhan O Burns, Caterina Cancrini, Pascal Cathébras, Marina Cavazzana, Morgane Cheminant, Matteo Chinello, Peter Cizna, Tanya I Coulter, Maud D’Aveni, Olov Ekwall, Zelimir Eric, Efrem Eren, Anders Fasth, Pierre Frange, Benjamin Fournier, Marina Garcia-Prat, Martine Gardembas, Christoph Geier, Sujal Ghosh, Vera Goda, Lennart Hammarström, Fabian Hauck, Maximilian Heeg, Edyta Heropolitanska-Pliszka, Anna Hilfanova, Stephen Jolles, Elif Karakoc-Aydiner, Gerhard R Kindle, Ayca Kiykim, Christian Klemann, Patra Koletsi, Sylwia Koltan, Irina Kondratenko, Julia Körholz, Renate Krüger, Eric Jeziorski, Romain Levy, Guillaume Le Guenno, Guillaume Lefevre, Vassilios Lougaris, Antonio Marzollo, Nizar Mahlaoui, Marion Malphettes, Andrea Meinhardt, Etienne Merlin, Isabelle Meyts, Tomas Milota, Fernando Moreira, Despina Moshous, Anna Mukhina, Olaf Neth, Jennifer Neubert, Benedicte Neven, Alexandra Nieters, Raphaele Nove-Josserand, Eric Oksenhendler, Ahmet Ozen, Peter Olbrich, Antoinette Perlat, Malgorzata Pac, Jana Pachlopnik Schmid, Lucia Pacillo, Alba Parra-Martinez, Olga Paschenko, Isabelle Pellier, Asena Pinar Sefer, Alessandro Plebani, Dominique Plantaz, Seraina Prader, Loic Raffray, Henrike Ritterbusch, Jacques G Riviere, Beatrice Rivalta, Stephan Rusch, Inga Sakovich, Sinisa Savic, Raphael Scheible, Nicolas Schleinitz, Catharina Schuetz, Ansgar Schulz, Anna Sediva, Michaela Semeraro, Svetlana O Sharapova, Anna Shcherbina, Mary A Slatter, Georgios Sogkas, Pere Soler-Palacin, Carsten Speckmann, Jean-Louis Stephan, Felipe Suarez, Alberto Tommasini, Johannes Trück, Annette Uhlmann, Koen J van Aerde, Joris van Montfrans, Horst von Bernuth, Klaus Warnatz, Tony Williams, Austen J J Worth, Winnie Ip, Capucine Picard, Emilie Catherinot, Zohreh Nademi, Bodo Grimbacher, Lisa R Forbes Satter, Sven Kracker, Anita Chandra, Alison M Condliffe, Stephan Ehl; European Society for Immunodeficiencies Registry Working Party
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23. September 2023 (GAIN)
Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow CytometryJ Clin Immunol. 2023 Sep 23. >>PubMed-Link<<
Jessica Rojas-Restrepo, Elena Sindram, Simon Zenke, Hanna Haberstroh, Noriko Mitsuiki, Annemarie Gabrysch, Katrin Huebscher, Sara Posadas-Cantera, Máté Krausz, Robin Kobbe, Jan C Rohr, Bodo Grimbacher, Laura Gámez-Díaz
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22. September 2023 (GAIN)
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinibClin Immunol. 2023 Sep 22. >>PubMed-Link<<
Friedrich G Kapp, Stefanie Kretschmer, Cora C A Beckmann, Lena Wäsch, Anne Molitor, Raphaël Carapito, Mario Schubert, Nadja Lucas, Solène Conrad, Sylvaine Poignant, Bertrand Isidor, Meino Rohlfs, Ayşenur Paç Kisaarslan, Denny Schanze, Martin Zenker, Annette Schmitt-Graeff, Brigitte Strahm, Anke Peters, Ayami Yoshimi, Wolfgang Driever, Thomas Zillinger, Claudia Günther, Shovamayee Maharana, Kaomei Guan, Christoph Klein, Stephan Ehl, Charlotte M Niemeyer, Ekrem Unal, Seiamak Bahram, Fabian Hauck, Min Ae Lee-Kirsch, Carsten Speckmann
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21. September 2023 (GAIN)
Case Report: Response of cutaneous lupus lesions in SLE to interferon receptor blockade parallels reduction of interferon score in bloodFront Immunol. 2023 Sep 21. >>PubMed-Link<<
Claudia Günther, Christine Wolf, Louisa Fennen, Sarah Rösing, Stefan Beissert, Martin Aringer, Min Ae Lee-Kirsch
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5. August 2023 (GAIN)
Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9J Allergy Clin Immunol. 2023 Aug 5. >>PubMed-Link<<
Christine Wolf, Hannah Fischer, Jörn-Sven Kühl, Sarah Koss, Rami Abou Jamra, Sven Starke, Jurek Schultz, Stephan Ehl, Katrin Neumann, Catharina Schuetz, Robert Huber, Veit Hornung, Min Ae Lee-Kirsch
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1. August 2023 (GAIN)
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiencyJ Allergy Clin Immunol. 2023 Aug. >>PubMed-Link<<
Annaïse J Jauch, Olivier Bignucolo, Sayuri Seki, Marie Ghraichy, Ottavia M Delmonte, Valentin von Niederhäusern, Rebecca Higgins, Adhideb Ghosh, Masako Nishizawa, Mariko Tanaka, Adrian Baldrich, Julius Köppen, Julia R Hirsiger, Robin Hupfer, Stephan Ehl, Anne Rensing-Ehl, Helmut Hopfer, Spasenija Savic Prince, Stephen R Daley, Florian A Marquardsen, Benedikt J Meyer, Michael Tamm, Thomas D Daikeler, Tamara Diesch, Thomas Kühne, Arthur Helbling, Caroline Berkemeier, Ingmar Heijnen, Alexander A Navarini, Johannes Trück, Jean-Pierre de Villartay, Annette Oxenius, Christoph T Berger, Christoph Hess, Luigi D Notarangelo, Hiroyuki Yamamoto, Mike Recher
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1. August 2023 (GAIN)
Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencingGenes Immun. 2023 Aug. >>PubMed-Link<<
Zahra Alizadeh, Mohammad Reza Fazlollahi, Marzieh Mazinani, Mohsen Badalzadeh, Hanieh Heydarlou, Raphael Carapito, Anne Molitor, Andrés Caballero Garcia de Oteyza, Michele Proietti, Maryam Soleimani Bavani, Mansoureh Shariat, Morteza Fallahpour, Masoud Movahedi, Leila Moradi, Bodo Grimbacher, Seiamak Bahram, Zahra Pourpak
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1. July 2023 (GAIN)
Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection SusceptibilityJ Clin Immunol. 2023 Jul. >>PubMed-Link<<
Yoong Wearn Lim, Neftali Jose Ramirez, Michael A Asensio, Yao Chiang, Gabriele Müller, Pavla Mrovecova, Noriko Mitsuiki, Máté Krausz, Nadezhda Camacho-Ordonez, Klaus Warnatz, Adam S Adler, Bodo Grimbacher
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27. June 2023 (GAIN)
Age-associated B cells predict impaired humoral immunity after COVID-19 vaccination in patients receiving immune checkpoint blockadeNat Commun. 2023 Jun 27. >>PubMed-Link<<
Juan Carlos Yam-Puc, Zhaleh Hosseini, Emily C Horner, Pehuén Pereyra Gerber, Nonantzin Beristain-Covarrubias, Robert Hughes, Aleksei Lulla, Maria Rust, Rebecca Boston, Magda Ali, Katrin Fischer, Edward Simmons-Rosello, Martin O’Reilly, Harry Robson, Lucy H Booth, Lakmini Kahanawita, Andrea Correa-Noguera, David Favara, Lourdes Ceron-Gutierrez, Baerbel Keller, Andrew Craxton, Georgina S F Anderson, Xiao-Ming Sun, Anne Elmer, Caroline Saunders, Areti Bermperi, Sherly Jose, Nathalie Kingston, Thomas E Mulroney, Lucia P G Piñon; CITIID-NIHR COVID−19 BioResource Collaboration; Michael A Chapman, Sofia Grigoriadou, Marion MacFarlane, Anne E Willis, Kiran R Patil, Sarah Spencer, Emily Staples, Klaus Warnatz, Matthew S Buckland, Florian Hollfelder, Marko Hyvönen, Rainer Döffinger, Christine Parkinson, Sara Lear, Nicholas J Matheson, James E D Thaventhiran
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5. June 2023 (GAIN)
Management of a patient with common variable immunodeficiency and hepatopathyAllergy Asthma Clin Immunol. 2023 Jun 5. >>PubMed-Link<<
Lea Grümme, Hendrik Schulze-Koops
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1. May 2023 (GAIN)
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus StatementJAMA Netw Open. 2023 May 1. >>PubMed-Link<<
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 Khubchandani, Femke C C Klouwer, Evan A Luton, Ada W Man, Isabelle Meyts, Joris M Van Montfrans, Seza Ozen, Janna Saarela, Gustavo C Santo, Aman Sharma, Ariane Soldatos, Rachel Sparks, Troy R Torgerson, Ignacio Leandro Uriarte, Taryn A B Youngstein, Qing Zhou, Ivona Aksentijevich, Daniel L Kastner, Eugene P Chambers, Amanda K Ombrello; DADA2 Foundation
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1. May 2023 (GAIN)
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumoniaJ Exp Med. 2023 May 1. >>PubMed-Link<<
Ana García-García, Rebeca Pérez de Diego, Carlos Flores, Darawan Rinchai, Jordi Solé-Violán, Àngela Deyà-Martínez, Blanca García-Solis, José M Lorenzo-Salazar, Elisa Hernández-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph B Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco M Marco, Claudio Pignata, Aziz Bousfiha, Stuart E Turvey, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendinez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine M Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Ángel Cárdenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Claudia Fortuny, Swetha Madhavarapu, Daniel H Conway, Carolina Prando, Laire Schidlowski, María Teresa Martínez de Saavedra Álvarez, Rafael Alfaro, Felipe Rodríguez de Castro; ESID Registry Working Party; COVID Human Genetic Effort; Isabelle Meyts, Fabian Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurélie Cobat, Qian Zhang, Jean-Laurent Casanova, Laia Alsina, Carlos Rodríguez-Gallego
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21. April 2023 (GAIN)
The GAIN Registry – a New Prospective Study for Patients with Multi-organ Autoimmunity and AutoinflammationJ Clin Immunol. 2023 Apr 21. >>PubMed-Link<<
Paulina Staus, Stephan Rusch, Sabine El-Helou, Gabriele Müller, Máté Krausz, Ulf Geisen, Andrés Caballero-Oteyza, Renate Krüger, Shahrzad Bakhtiar, Min Ae Lee-Kirsch, Maria Fasshauer, Ulrich Baumann, Bimba Franziska Hoyer, João Farela Neves, Michael Borte, Maria Carrabba, Fabian Hauck, Stephan Ehl, Peter Bader, Horst von Bernuth, Faranaz Atschekzei, Mikko R J Seppänen, Klaus Warnatz, Alexandra Nieters, Gerhard Kindle, Bodo Grimbacher
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15. March 2023 (GAIN)
T-bet(high)CD21(low) B cells: the need to unify our understanding of a distinct B cell population in health and diseaseCurr Opin Immunol. 2023 Mar 15. >>PubMed-Link<<
Baerbel Keller, Klaus Warnatz
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27. February 2023 (GAIN)
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)J Clin Immunol. 2023 Feb 27. >>PubMed-Link<<
Carsten Speckmann, Uta Nennstiel, Manfred Hönig, Michael H Albert, Sujal Ghosh, Catharina Schuetz, Inken Brockow, Friederike Hörster, Tim Niehues, Stephan Ehl, Volker Wahn, Stephan Borte, Kai Lehmberg, Ulrich Baumann, Rita Beier, Renate Krüger, Shahrzad Bakhtiar, Joern-Sven Kuehl, Christian Klemann, Udo Kontny, Ursula Holzer, Andrea Meinhardt, Henner Morbach, Nora Naumann-Bartsch, Tobias Rothoeft, Alexandra Y Kreins, E Graham Davies, Dominik T Schneider, Horst V Bernuth, Thomas Klingebiel, Georg F Hoffmann, Ansgar Schulz, Fabian Hauck
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6. February 2023 (GAIN)
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiencyJ Exp Med. 2023 Feb 6. >>PubMed-Link<<
Romain Lévy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian S Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur-Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M McDermott, Lucy Cliffe, Ahmet Ozen, Safa Baris, Hemalatha G Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Cagdas, Roshini S Abraham, Alan P Knutsen, Borre Fevang, Sagar Bhattad, Ayca Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Unal, Ashish Kumar, Christoph B Geier, Ulrich Baumann, Bénédicte Neven; CARMIL2 Consortium; Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean-Laurent Casanova, Fabian Hauck, Vivien Béziat
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24. January 2023 (GAIN)
Common Variable Immunodeficiency: More Pathways than Roads to RomeAnnu Rev Pathol. 2023 Jan 24. >>PubMed-Link<<
Xiao P Peng, Andrés Caballero-Oteyza, Bodo Grimbacher
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10. January 2023 (GAIN)
Editorial: Updates on the pathogenesis of common variable immunodeficiency (CVID)Front Immunol. 2023 Jan 10. >>PubMed-Link<<
Timi Martelius, Mikko R J Seppänen, Klaus Warnatz
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2. January 2023 (GAIN)
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosisJ Exp Med. 2023 Jan 2. >>PubMed-Link<<
Masato Ogishi, Rui Yang, Rémy Rodriguez, Dominic P Golec, Emmanuel Martin, Quentin Philippot, Jonathan Bohlen, Simon J Pelham, Andrés Augusto Arias, Taushif Khan, Manar Ata, Fatima Al Ali, Flore Rozenberg, Xiao-Fei Kong, Maya Chrabieh, Candice Laine, Wei-Te Lei, Ji Eun Han, Yoann Seeleuthner, Zenia Kaul , Emmanuelle Jouanguy, Vivien Béziat, Leila Youssefian, Hassan Vahidnezhad, V Koneti Rao, Bénédicte Neven, Claire Fieschi, Davood Mansouri, Mohammad Shahrooei, Sevgi Pekcan, Gulsum Alkan, Melike Emiroğlu, Hüseyin Tokgöz, Jouni Uitto, Fabian Hauck, Jacinta Bustamante, Laurent Abel, Sevgi Keles, Nima Parvaneh, Nico Marr, Pamela L Schwartzberg, Sylvain Latour, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis
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14. December 2022 (GAIN)
COVID-19 vaccination in individuals with inflammatory rheumatic diseasesNat Rev Rheumatol. 2022 Dec 14. >>PubMed-Link<<
Alla Skapenko, Hendrik Schulze-Koops
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1. December 2022 (GAIN)
Inborn errors of immunity associated with defects of self-tolerance checkpoints: The CD28 familyPediatr Allergy Immunol. 2022 Dec. >>PubMed-Link<<
Jorrell Rush-Kittle, Laura Gámez-Díaz, Bodo Grimbacher
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2. November 2022 (GAIN)
Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?Front Immunol. 2022 Nov 2. >>PubMed-Link<<
Máté Krausz, Noriko Mitsuiki, Valeria Falcone, Johanna Komp, Sara Posadas-Cantera, Hanns-Martin Lorenz, Jiri Litzman, Daniel Wolff, Maria Kanariou, Anita Heinkele, Carsten Speckmann, Georg Häcker, Hartmut Hengel, Laura Gámez-Díaz, Bodo Grimbacher
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25. October 2022 (GAIN)
Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency-Associated Villous Atrophy and Norovirus InfectionJ Clin Immunol. 2022 Oct 25. >>PubMed-Link<<
Valentina Strohmeier, Geoffroy Andrieux, Susanne Unger, Anna Pascual-Reguant, Adam Klocperk, Maximilian Seidl, Otavio Cabral Marques, Marleen Eckert, Katja Gräwe, Michelle Shabani, Caroline von Spee-Mayer, David Friedmann, Ina Harder, Sylvia Gutenberger, Baerbel Keller, Michele Proietti, Alla Bulashevska, Bodo Grimbacher, Jan Provaznik, Vladimir Benes, Sigune Goldacker, Christoph Schell, Anja E Hauser, Melanie Boerries, Peter Hasselblatt, Klaus Warnatz
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20. October 2022 (GAIN)
Allele-Specific Disruption of a Common STAT3 Autosomal Dominant Allele Is Not Sufficient to Restore Downstream Signaling in Patient-Derived T CellsGenes (Basel). 2022 Oct 20. >>PubMed-Link<<
Saskia König, Manfred Fliegauf, Manuel Rhiel, Bodo Grimbacher, Tatjana I Cornu, Toni Cathomen, Claudio Mussolino
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11. October 2022 (GAIN)
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeJ Allergy Clin Immunol. 2022 Oct 11. >>PubMed-Link<<
Jennifer W Leiding, Tiphanie P Vogel, Valentine Santarlas, Rahul Mhaskar, Madison R Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai , Charlotte Cunningham-Rundles, Cullen M Dutmer, Svetlana O Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S Bauer, Sarah E Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E Sullivan, Eric Allenspach, Neil Romberg, Sean G Deane, Benjamin T Prince, Melissa J Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris 22, Lisa M Bartnikas, Amy Chang Berger, Tracy A Briggs, Shannon Brothers, Vanessa Bundy, Alice Y Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C Cook, Mukesh M Desai, Ute Fischer, David A Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen 15, Tarja Heiskanen-Kosma, Hal M Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suegeorgz, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth; STAT3 GOF Working Group members; Mikko R J Seppänen, Troy R Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G Tangye, Megan A Cooper, Joshua D Milner, Lisa R Forbes Satter
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6. October 2022 (GAIN)
Deciphering imprints of impaired memory B-cell maturation in germinal centers of three patients with common variable immunodeficiencyFront Immunol. 2022 Oct. >>PubMed-Link<<
Pauline van Schouwenburg, Susanne Unger, Kathryn J Payne, Fabian M P Kaiser, Ingrid Pico-Knijnenburg, Jens Pfeiffer, Oliver Hausmann, David Friedmann, Michelle Erbel, Maximilian Seidl, David van Zessen, Andrew P Stubbs, Mirjam van der Burg, Klaus Warnatz
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3. October 2022 (GAIN)
Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiencyJ Exp Med. 2022 Oct 3. >>PubMed-Link<<
Masato Ogishi , Andrés Augusto Arias, Rui Yang, Ji Eun Han, Peng Zhang, Darawan Rinchai, Joshua Halpern, Jeanette Mulwa, Narelle Keating, Maya Chrabieh, Candice Lainé, Yoann Seeleuthner, Noé Ramírez-Alejo, Nioosha Nekooie-Marnany, Andrea Guennoun, Ingrid Muller-Fleckenstein, Bernhard Fleckenstein, Sara S. Kilic, Yoshiyuki Minegishi, Stephan Ehl, Petra Kaiser-Labusch, Yasemin Kendir-Demirkol, Flore Rozenberg, Abderrahmane Errami, Shen-Ying Zhang, Qian Zhang, Jonathan Bohlen, Quentin Philippot, Anne Puel, Emmanuelle Jouanguy, Zahra Pourmoghaddas, Shahrzad Bakhtiar, Andre M. Willasch, Gerd Horneff, Genevieve Llanora, Lynette P. Shek, Louis Y.A. Chai, Sen Hee Tay, Hamid H. Rahimi, Seyed Alireza Mahdaviani, Serdar Nepesov, Aziz A. Bousfiha, Emine Hafize Erdeniz, Adem Karbuz, Nico Marr, Carmen Navarrete, Mehdi Adeli, Lennart Hammarstrom, Hassan Abolhassani, Nima Parvaneh, Saleh Al Muhsen, Mohammed F. Alosaimi, Fahad Alsohime, Maryam Nourizadeh, Mostafa Moin, Rand Arnaout, Saad Alshareef, Jamila El-Baghdadi, Ferah Genel, Roya Sherkat, Ayça Kiykim, Esra Yücel, Sevgi Keles, Jacinta Bustamante, Laurent Abel, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis
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24. September 2022 (GAIN)
The ABACHAI clinical trial protocol: Safety and efficacy of abatacept (s.c.) in patients with CTLA-4 insufficiency or LRBA deficiency: A non controlled phase 2 clinical trialContemp Clin Trials Commun. 2022 Sep 24. >>PubMed-Link<<
Máté Krausz, Annette Uhlmann, Ina Caroline Rump, Gabriele Ihorst, Sigune Goldacker, Georgios Sogkas, Sara Posadas-Cantera, Reinhold Schmidt, Manuel Feißt, Laia Alsina, Ingunn Dybedal, Mike Recher, Klaus Warnatz, Bodo Grimbacher
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1. September 2022 (GAIN)
Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritisRMD Open. 2022 Sep. >>PubMed-Link<<
Faranaz Atschekzei, Natalia Dubrowinskaja, Manfred Anim, Thea Thiele, Torsten Witte, Georgios Sogkas
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29. August 2022 (GAIN)
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50Front Immunol. 2022 Aug 29. >>PubMed-Link<<
Manfred Fliegauf, Matias Kinnunen, Sara Posadas-Cantera, Nadezhda Camacho-Ordonez, Hassan Abolhassani, Laia Alsina, Faranaz Atschekzei, Delfien J Bogaert, Siobhan O Burns, Joseph A Church, Gregor Dückers, Alexandra F Freeman, Lennart Hammarström, Leif Gunnar Hanitsch, Tessa Kerre, Robin Kobbe, Svetlana O Sharapova, Kathrin Siepermann, Carsten Speckmann, Sophie Steiner, Nisha Verma, Jolan E Walter, Emma Westermann-Clark, Sigune Goldacker, Klaus Warnatz, Markku Varjosalo, Bodo Grimbacher
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19. August 2022 (GAIN)
The long term vaccine-induced anti-SARS-CoV-2 immune response is impaired in quantity and quality under TNFα blockade.J Med Virol., 2022 Aug 19. >>PubMed-Link<<
Ulf Martin Geisen, Ruben Rose, Franziska Neumann, Maria Ciripoi, Lena Vullriede, Hayley M Reid, Dennis Kristopher Berner, Federico Bertoglio, Paula Hoff, Michael Hust, Ann Carolin Longardt, Thomas Lorentz, Gabriela Rios Martini, Carina Saggau, Jan Henrik Schirmer, Maren Schubert, Melike Sümbül, Florian Tran, Mathias Voß, Rainald Zeuner, Peter J Morrison, Petra Bacher, Helmut Fickenscher, Sascha Gerdes, Matthias Peipp, Stefan Schreiber, Andi Krumbholz, Bimba Franziska Hoyer
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16. August 2022 (GAIN)
Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACIFront Immunol. 2022 Aug 16. >>PubMed-Link<<
Neftali Ramirez, Sara Posadas-Cantera, Niko Langer, Andres Caballero Garcia de Oteyza, Michele Proietti, Baerbel Keller, Fangwen Zhao, Victoria Gernedl, Matteo Pecoraro, Hermann Eibel, Klaus Warnatz, Esteban Ballestar, Roger Geiger, Claudia Bossen, Bodo Grimbacher
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9. August 2022 (GAIN)
The long term vaccine-induced anti-SARS-CoV-2 immune response is impaired in quantity and quality under TNFα blockadeJ Med Virol. 2022 Aug 9. >>PubMed-Link<<
Ulf Martin Geisen, Ruben Rose, Franziska Neumann, Maria Ciripoi, Lena Vullriede, Hayley M Reid, Dennis Kristopher Berner, Federico Bertoglio, Paula Hoff, Michael Hust, Ann Carolin Longardt, Thomas Lorentz, Gabriela Rios Martini, Carina Saggau, Jan Henrik Schirmer, Maren Schubert, Melike Sümbü, Florian Tran, Mathias Voß, Rainald Zeuner, Peter J Morrison, Petra Bacher, Helmut Fickenscher, Sascha Gerdes, Matthias Peipp, Stefan Schreiber, Andi Krumbholz, Bimba Franziska Hoyer
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22. July 2022 (GAIN)
Human T-bet governs the generation of a distinct subset of CD11c(high)CD21(low) B cellsSci Immunol. 2022 Jul 22. >>PubMed-Link<<
Rui Yang, Danielle T Avery, Katherine J L Jackson, Masato Ogishi, Ibtihal Benhsaien, Likun Du, Xiaofei Ye, Jing Han, Jérémie Rosain, Jessica N Peel, Marie-Alexandra Alyanakian, Bénédicte Neven, Sarah Winter, Anne Puel, Bertrand Boisson, Kathryn J Payne, Melanie Wong, Amanda J Russell, Yoko Mizoguchi, Satoshi Okada, Gulbu Uzel, Christopher C Goodnow, Sylvain Latour, Jalila El Bakkouri, Aziz Bousfiha, Kahn Preece, Paul E Gray, Baerbel Keller, Klaus Warnatz, Stéphanie Boisson-Dupuis, Laurent Abel, Qiang Pan-Hammarström, Jacinta Bustamante, Cindy S Ma, Jean-Laurent Casanova, Stuart G Tangye
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21. June 2022 (GAIN)
STAT3-confusion-of-function: Beyond the loss and gain dualismJ Allergy Clin Immunol. 2022 Jun 21. >>PubMed-Link<<
Lorenzo Lodi, Laura Eva Faletti, Maria Elena Maccari, Filippo Consonni, Miriam Groß, Ilaria Pagnini, Silvia Ricci, Maximilian Heeg, Gabriele Simonini, Chiara Azzari, Stephan Ehl
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18. June 2022 (GAIN)
Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 MutationsIran J Allergy Asthma Immunol. 2022 Jun 18. >>PubMed-Link<<
Shiva Saghafi, Fariborz Zandieh, Mohammad Reza Fazlollahi, Cristina Glocker, Natalie Frede, Mary Buchta, Linlin Yang, Amir Hossein Mahmoudi, Massoud Houshmand, Zahra Pourpak, Bodo Grimbacher, Mostafa Moin
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16. May 2022 (GAIN)
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and GainsJ Clin Immunol. 2022 Apr 29. >>PubMed-Link<<
Rensheng Wan, Maximilian Schieck, Andrés Caballero-Oteyza, Winfried Hofmann, Alexis Virgil Cochino, Anna Shcherbina, Roya Sherkat, Clarisse Wache-Mainier, Anita Fernandez, Marc Sultan, Thomas Illig, Bodo Grimbacher, Michele Proietti, Doris Steinemann
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31. March 2022 (GAIN)
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysisBlood. 2022 Mar 31. >>PubMed-Link<<
Michael H Albert, Mary A Slatter, Andrew R Gennery, Tayfun Güngör, Katerina Bakunina, Benyamin Markovitch, Sheree Hazelaar, Tiarlan Sirait, Virginie Courteille, Alessandro Aiuti, Olga V Aleinikova, Dmitry Balashov, Maria Ester Bernardo, Ivana Bodova, Benedicte Bruno, Marina Cavazzana, Robert Chiesa, Alain Fischer, Fabian Hauck, Marianne Ifversen, Krzysztof Kałwak, Christoph Klein, Alexander Kulagin, Alphan Kupesiz, Baris Kuskonmaz, Caroline A Lindemans, Franco Locatelli, Su Han Lum, Alexey Maschan, Roland Meisel, Despina Moshous, Fulvio Porta, Martin G Sauer, Petr Sedlacek, Ansgar Schulz, Felipe Suarez, Tanja C Vallée, Jacek H Winiarski, Marco Zecca, Bénédicte Neven, Paul Veys, Arjan C Lankester
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25. March 2022 (GAIN)
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiationSci Immunol. 2022 Mar 25. >>PubMed-Link<<
Akihiro Hoshino, David Boutboul, Yuan Zhang, Hye Sun Kuehn, Jerôme Hadjadj, Nihal Özdemir, Tiraje Celkan, Christoph Walz, Capucine Picard, Christelle Lenoir, Nizar Mahlaoui, Christoph Klein, Xiao Peng, Antoine Azar, Erin Reigh, Morgane Cheminant, Alain Fischer, Frédéric Rieux-Laucat, Isabelle Callebaut, Fabian Hauck, Joshua Milner, Sergio D Rosenzweig, Sylvain Latour
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17. February 2022 (GAIN)
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiencyJ Allergy Clin Immunol. 2022 Feb 17. >>PubMed-Link<<
Florian Gothe, Jarmila Stremenova Spegarova, Catherine F Hatton, Helen Griffin, Thomas Sargent, Sally A Cowley, William James, Anna Roppelt, Anna Shcherbina, Fabian Hauck, Hugh T Reyburn, Christopher J A Duncan, Sophie Hambleton
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17. February 2022 (GAIN)
Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic FactorsFront Immunol. 2022 Feb 17. >>PubMed-Link<<
Luzia Bruns, Victoria Panagiota, Sandra von Hardenberg, Gunnar Schmidt, Ignatius Ryan Adriawan, Eleni Sogka, Stefanie Hirsch, Gerrit Ahrenstorf, Torsten Witte, Reinhold Ernst Schmidt, Faranaz Atschekzei, Georgios Sogkas
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28. January 2022 (GAIN)
Dysregulated PI3K Signaling in B Cells of CVID PatientsCells. 2022 Jan 28. >>PubMed-Link<<
Ina Harder, Matthias Münchhalfen, Geoffroy Andrieux, Melanie Boerries, Bodo Grimbacher, Hermann Eibel, Maria Elena Maccari, Stephan Ehl, Jürgen Wienands, Julia Jellusova, Klaus Warnatz, Baerbel Keller
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24. January 2022 (GAIN)
Treatment of STAT3-deficient hyper-immunoglobulin E syndrome with monoclonal antibodies targeting allergic inflammationJ Allergy Clin Immunol Pract. 2022 Jan 24. >>PubMed-Link<<
Alyssa E James, Laura West, Katheryn Schloss, Pavan Nataraj, Amanda Urban, Aleksandra Hirsch, Máté Krausz, Shashi Kumar, Jason Raasch, Kimberly Risma, Joseph A Church, Bodo Grimbacher, Jenna R E Bergerson, Hey Chong, Alexandra F Freeman
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11. January 2022 (GAIN)
Predictive Factors for and Complications of Bronchiectasis in Common Variable Immunodeficiency DisordersJ Clin Immunol. 2022 Jan 11. >>PubMed-Link<<
Johannes M Sperlich, Bodo Grimbacher, Veronika Soetedjo, Sarita Workman, Siobhan O Burns, David M Lowe, John R Hurst
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1. January 2022 (GAIN)
Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variantsClin Immunol. 2022 Jan. >>PubMed-Link<<
Chantal E Hargreaves, Fatima Dhalla, Arzoo M Patel, Andrés Caballero Garcia de Oteyza, Elizabeth Bateman, Joanne Miller, Consuelo Anzilotti, Lisa Ayers, Bodo Grimbacher, Smita Y Patel
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26. December 2021 (GAIN)
The Neurokinin-1 Receptor Is a Target in Pediatric Rhabdoid TumorsCurr Oncol. 2021 Dec 26. >>PubMed-Link<<
Julian Kolorz, Salih Demir, Adrian Gottschlich, Iris Beirith, Matthias Ilmer, Daniel Lüthy, Christoph Walz, Mario M. Dorostkar, Thomas Magg, Fabian Hauck, Dietrich von Schweinitz, Sebastian Kobold, Roland Kappler, Michael Berger
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24. December 2021 (GAIN)
Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1Front Immunol. 2021 Dec 24. >>PubMed-Link<<
Manfred Anim, Georgios Sogkas, Gunnar Schmidt, Natalia Dubrowinskaja, Torsten Witte, Reinhold Ernst Schmidt, Faranaz Atschekzei
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20. December 2021 (GAIN)
Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of ImmunityFront Immunol. 2021 Dec 20. >>PubMed-Link<<
Ludmila Perelygina, Raeesa Faisthalab, Emily Abernathy, Min-Hsin Chen, LiJuan Hao, Lionel Bercovitch, Diana K Bayer, Lenora M Noroski, Michael T Lam, Maria Pia Cicalese, Waleed Al-Herz, Arti Nanda, Joud Hajjar, Koen Vanden Driessche, Shari Schroven, Julie Leysen, Misha Rosenbach, Philipp Peters, Johannes Raedler, Michael H Albert, Roshini S Abraham, Hemalatha G Rangarjan, David Buchbinder, Lisa Kobrynski, Anne Pham-Huy, Julie Dhossche, Charlotte Cunningham Rundles, Anna K Meyer, Amy Theos, T Prescott Atkinson, Amy Musiek, Mehdi Adeli, Ute Derichs, Christoph Walz, Renate Krüger, Horst von Bernuth, Christoph Klein, Joseph Icenogle, Fabian Hauck, Kathleen E Sullivan
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17. December 2021 (GAIN)
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study -
14. December 2021 (GAIN)
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiencyJ Allergy Clin Immunol. 2021 Dec. >>PubMed-Link<<
Linlin Yang, Claire Booth, Carsten Speckmann, Markus G Seidel, Austen Jj Worth, Gerhard Kindle, Arjan C Lankester, Grimbacher B, ESID Clinical and Registry Working Parties; Andrew R Gennery, Mikko Rj Seppanen, Emma C Morris, Siobhan O Burns
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1. December 2021 (GAIN)
Humoral protection to SARS-CoV2 declines faster in patients on TNF alpha blocking therapiesRMD Open. 2021 Dec. >>PubMed-Link<<
Ulf M Geisen, Melike Sümbül, Florian Tran, Dennis K Berner, Hayley M Reid, Lena Vullriede, Maria Ciripoi, Ann C Longardt, Paula Hoff, Peter J Morrison, Verena E Schneider, Rainald Zeuner, Jan H Schirmer, Andrea Steinbach, Susanna Nikolaus, S Gerdes, Stefan Schreiber, Petra Bacher, Bimba F Hoyer
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1. December 2021 (GAIN)
Humoral protection to SARS-CoV2 declines faster in patients on TNF alpha blocking therapiesRMD Open. 2021 Dec. >>PubMed-Link<<
Ulf M Geisen, Melike Sümbül, Florian Tran, Dennis K Berner, Hayley M Reid, Lena Vullriede, Maria Ciripoi, Ann C Longardt, Paula Hoff, Peter J Morrison, Verena E Schneider, Rainald Zeuner, Jan H Schirmer, Andrea Steinbach, Susanna Nikolaus, S Gerdes, Stefan Schreiber, Petra Bacher, Bimba F Hoyer
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1. December 2021 (GAIN)
Humoral protection to SARS-CoV2 declines faster in patients on TNF alpha blocking therapiesRMD Open. 2021 Dec. >>PubMed-Link<<
Ulf M Geisen, Melike Sümbül, Florian Tran, Dennis K Berner, Hayley M Reid, Lena Vullriede, Maria Ciripoi, Ann C Longardt, Paula Hoff, Peter J Morrison, Verena E Schneider, Rainald Zeuner, Jan H Schirmer, Andrea Steinbach, Susanna Nikolaus, S Gerdes, Stefan Schreiber, Petra Bacher, Bimba F Hoyer
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19. November 2021 (GAIN)
The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of ImmunityJ Clin Immunol. 2021 Nov 19. >>PubMed-Link<<
Markus G Seidel, Victoria K Tesch, Linlin Yang, Fabian Hauck, Anna Lena Horn, Maria Anna Smolle, Franz Quehenberger, Martin Benesch
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1. November 2021 (GAIN)
BTK operates a phospho-tyrosine switch to regulate NLRP3 inflammasome activityJ Exp Med. 2021 Nov 1. >>PubMed-Link<<
Zsófia Agnes Bittner, Xiao Liu, Maria Mateo Tortola, Ana Tapia-Abellán, Sangeetha Shankar, Liudmila Andreeva, Matthew Mangan, Marianne Spalinger, Hubert Kalbacher, Peter Düwell, Marta Lovotti, Karlotta Bosch, Sabine Dickhöfer, Ana Marcu, Stefan Stevanović, Franziska Herster, Yamel Cardona Gloria, Tzu-Hsuan Chang, Francesca Bork, Carsten L Greve, Markus W Löffler, Olaf-Oliver Wolz, Nadine A Schilling, Jasmin B Kümmerle-Deschner, Samuel Wagner, Anita Delor, Bodo Grimbacher, Oliver Hantschel, Michael Scharl, Hao Wu, Eicke Latz, Alexander N R Weber
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15. October 2021 (GAIN)
The expansion of human T-bet high CD21 low B cells is T cell dependentSci Immunol. 2021 Oct 15. >>PubMed-Link<<
Bärbel Keller, Valentina Strohmeier, Ina Harder, Susanne Unger, Kathryn J Payne, Geoffroy Andrieux, Melanie Boerries, Peter Tobias Felixberger, Jonathan J M Landry, Alexandra Nieters, Anne Rensing-Ehl, Ulrich Salzer, Natalie Frede, Susanne Usadel, Roland Elling, Carsten Speckmann, Ina Hainmann, Elizabeth Ralph, Kimberly Gilmour, Marjolein W J Wentink, Mirjam van der Burg, Hye Sun Kuehn, Sergio D Rosenzweig, Uwe Kölsch, Horst von Bernuth, Petra Kaiser-Labusch, Florian Gothe, Sophie Hambleton, Alexandru Daniel Vlagea, Ana Garcia Garcia, Laia Alsina, Gašper Markelj, Tadej Avcin, Julia Vasconcelos, Margarida Guedes, Jing-Ya Ding, Cheng-Lung Ku , Bella Shadur, Danielle T Avery, Nils Venhoff, Jens Thiel, Heiko Becker, Lucía Erazo-Borrás, Claudia Milena Trujillo-Vargas, José Luis Franco, Claire Fieschi, Satoshi Okada, Paul E Gray, Gulbu Uzel, Jean-Laurent Casanova, Manfred Fliegauf, Bodo Grimbacher, Hermann Eibel, Stephan Ehl, Reinhard E Voll, Marta Rizzi, Polina Stepensky, Vladimir Benes, Cindy S Ma, Claudia Bossen, Stuart G Tangye, Klaus Warnatz
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7. October 2021 (GAIN)
Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary ImmunodeficiencyInt Arch Allergy Immunol. 2021 Oct 7. >>PubMed-Link<<
Georgios Sogkas, Natalia Dubrowinskaja, Katharina Schütz, Lars Steinbrück, Jasper Götting, Nicolaus Schwerk, Ulrich Baumann, Bodo Grimbacher, Torsten Witte, Reinhold E Schmidt, Faranaz Atschekzei
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1. October 2021 (GAIN)
Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal InflammationJ Clin Immunol. 2021 Oct 1. >>PubMed-Link<<
Cornelia M van Schewick, David M Lowe, Siobhan O Burns, Sarita Workman, Andrew Symes, David Guzman, Fernando Moreira, Jennifer Watkins, Ian Clark, Bodo Grimbacher
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28. September 2021 (GAIN)
Novel aspects of regulatory T cell dysfunction as a therapeutic target in giant cell arteritisAnn Rheum Dis. 2021 Sep 28. >>PubMed-Link<<
Ignatius Ryan Adriawan, Faranaz Atschekzei, Oliver Dittrich-Breiholz, Panagiotis Garantziotis, Stefanie Hirsch, Linus Maximillian Risser, Maike Kosanke, Reinhold Ernst Schmidt, Torsten Witte, Georgios Sogkas
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22. September 2021 (GAIN)
Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patientsPediatr Pulmonol. 2021 Sep 22. >>PubMed-Link<<
Florian Gothe, Jonathan Gehrig, Christina Katharina Rapp, Katrin Knoflach, Simone Reu-Hofer, Florian Länger, Dirk Schramm, Julia Ley-Zaporozhan, Stephan Ehl, Nicolaus Schwerk, Laura Faletti, Matthias Griese
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13. August 2021 (GAIN)
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell DeficiencyJ Clin Immunol. 2021 Aug 13. >>PubMed-Link<<
Lenz, D., Pahl, J., Hauck, F., Alameer, S., Balasubramanian, M., Baric, I., Boy, N., Church, J. A., Crushell, E., Dick, A., Distelmaier, F., Gujar, J., Indolfi, G., Lurz, E., Peters, B., Schwerd, T., Serranti, D., Kolker, S., Klein, C., Hoffmann, G. F., Prokisch, H., Greil, J., Cerwenka, A., Giese, T., Staufner, C.
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1. August 2021 (GAIN)
TACI deficiency – a complex system out of balanceCurr Opin Immunol. 2021 Aug. >>PubMed-Link<<
Ulrich Salzer, Bodo Grimbacher
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1. August 2021 (GAIN)
TACI deficiency – a complex system out of balanceCurr Opin Immunol. 2021 Aug. >>PubMed-Link<<
Salzer, U, Grimbacher, B
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1. August 2021 (GAIN)
Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiencyClin Immunol. 2021 Aug. >>PubMed-Link<<
Lanz, A. L., Riester, M., Peters, P., Schwerd, T., Lurz, E., Hajji, M. S., Rohlfs, M., Ley-Zaporozhan, J., Walz, C., Kotlarz, D., Klein, C., Albert, M. H., Hauck, F.
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5. July 2021 (GAIN)
B cell depletion impairs vaccination-induced CD8 + T cell responses in a type I interferon-dependent mannerAnn Rheum Dis. 2021 Jul 5. >>PubMed-Link<<
Theresa Graalmann, Katharina Borst, Himanshu Manchanda, Lea Vaas, Matthias Bruhn, Lukas Graalmann, Mario Koster, Murielle Verboom, Michael Hallensleben, Carlos Alberto Guzmán, Gerd Sutter, Reinhold E Schmidt, Torsten Witte, Ulrich Kalinke
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1. July 2021 (GAIN)
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 DeficiencyJ Am Soc Nephrol. 2022 Jan. >>PubMed-Link<<
Tom Le Voyer, Sonoko Sakata, Miyuki Tsumura, Taushif Khan, Ana Esteve-Sole, Bandar K Al-Saud, Hatice Eke Gungor, Prasad Taur, Valentine Jeanne-Julien, Mette Christiansen, Lisa-Maria Köhler, Gehad Eltayeb ElGhazali, Jérémie Rosain, Shiho Nishimura, Fumiaki Sakura, Matthieu Bouaziz, Carmen Oleaga-Quintas, Alejandro Nieto-Patlán , Àngela Deyà-Martinez, Yasemin Altuner Torun, Anna-Lena Neehus, Manon Roynard, Sefika Elmas Bozdemir, Nawal Al Kaabi, Moza Al Hassani, Irina Mersiyanova, Flore Rozenberg, Carsten Speckmann, Ina Hainmann, Fabian Hauck, Mohammed Hamdan Alzahrani, Sami Hussain Alhajjar, Saleh Al-Muhsen, Theresa Cole, Ramsay Fuleihan, Peter D Arkwright, Raffaele Badolato, Laia Alsina, Laurent Abel, Mukesh Desai, Hamoud Al-Mousa, Anna Shcherbina, Nico Marr, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Satoshi Okada, Jacinta Bustamante
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1. July 2021 (GAIN)
Pembrolizumab for treatment of progressive multifocal leukoencephalopathy in primary immunodeficiency and/or hematologic malignancy: a case series of five patientsJ Neurol. 2021 Jul 1. >>PubMed-Link<<
Volk, T., Warnatz, K., Marks, R., Urbach, H., Schluh, G., Strohmeier, V., Rojas-Restrepo, J., Grimbacher, B., Rauer, S.
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18. June 2021 (GAIN)
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiencySci Immunol. 2021 Jun 18. >>PubMed-Link<<
Thomas Magg, Tsubasa Okano, Lars M Koenig, Daniel F R Boehmer, Samantha L Schwartz, Kento Inoue, Jennifer Heimall, Francesco Licciardi, Julia Ley-Zaporozhan, Ronald M Ferdman, Andrés Caballero-Oteyza, Esther N Park, Brenda M Calderon, Debayan Dey, Hirokazu Kanegane, Kazutoshi Cho, Davide Montin, Karl Reiter, Matthias Griese, Michael H Albert, Meino Rohlfs, Paul Gray, Christoph Walz, Graeme L Conn, Kathleen E Sullivan, Christoph Klein, Tomohiro Morio, Fabian Hauck
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18. June 2021 (GAIN)
There is no gene for CVID — novel monogenetic causesCurr Opin Immunol. 2021 Jun 18. >>PubMed-Link<<
Neftali J Ramirez, Sara Posadas-Cantera, Andrés Caballero-Oteyza, Nadezhda Camacho-Ordonez, Bodo Grimbacher
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8. June 2021 (GAIN)
Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiencyLanz Clin Immunol. 2021 Jun 8. >>PubMed-Link<<
Riester M, Peters P, Schwerd T, Lurz E, Hajji MS, Rohlfs M, Ley-Zaporozhan J, Walz C, Kotlarz D, Klein C, Albert MH, Hauck F
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7. June 2021 (GAIN)
Therapeutic options for CTLA-4 InsufficiencyJ Allergy Clin Immunol. 2021 Jun 7. >>PubMed-Link<<
Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari M-E, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Yesim Kucuk Z, Chapdelaine H, Petruzelkova L, Lorenz H-M, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim Y-J, Bakhtiar S, Atschekzei F, Schmidt RE, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králíčková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B.
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2. June 2021 (GAIN)
Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 DeficiencyJ Clin Immunol. 2021 Jun 2. >>PubMed-Link<<
Raedler J, Magg T, Rohlfs M, Klein C, Vallée T, Hauck F, Albert MH
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31. May 2021 (GAIN)
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32Cell Mol Immunol. 2021 May 31. >>PubMed-Link<<
Lehmkuhl P, Gentz M, Caballero Garcia de Otezya A, Grimbacher B, Schulze-Koops H, Skapenko A
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21. May 2021 (GAIN)
Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reactionNucleic Acids Res. 2021 May 21.[Epub ahead of print] >>PubMed-Link<<
Francesc Català-Moll, Anna G Ferreté-Bonastre, Tianlu Li, Dieter Weichenhan, Pavlo Lutsik, Laura Ciudad, Ángel F Álvarez-Prado, Javier Rodríguez-Ubreva, Christian Klemann, Carsten Speckmann, Amaya Vilas-Zornoza, Hassan Abolhassani, Mónica Martínez-Gallo, Romina Dieli-Crimi, Jacques G Rivière, Andrea Martín-Nalda, Roger Colobran, Pere Soler-Palacín, Sven Kracker, Lennart Hammarström, Felipe Prosper, Anne Durandy, Bodo Grimbacher, Christoph Plass, Esteban Ballestar
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27. April 2021 (GAIN)
A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein DamageFront Immunol. 2021 Apr 27. >>PubMed-Link<<
Manfred Fliegauf, Renate Krüger, Sophie Steiner, Leif Gunnar Hanitsch, Sarah Büchel, Volker Wahn, Horst von Bernuth, Bodo Grimbacher
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19. April 2021 (GAIN)
Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromesBiomed J. 2021 Apr 19. >>PubMed-Link<<
Laura Gámez-Díaz, Bodo Grimbacher
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1. April 2021 (GAIN)
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and miceNat Genet. 2021 Apr. >>PubMed-Link<<
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, Vera Goda, Walter H A Kahr, Mathieu Lemaire, Genomics England Research Consortium; Chien-Yi Lu, Iram Siddiqui, Michael G Surette, Daniel Kotlarz, Karin R Engelhardt, Helen R Griffin, Robert Rottapel, Hélène Decaluwe, Ronald M Laxer, Michele Proietti, Sophie Hambleton, Suzanne Elcombe, Cong-Hui Guo, Bodo Grimbacher, Iris Dotan, Siew C Ng, Spencer A Freeman, Scott B Snapper, Christoph Klein, Kaan Boztug, Ying Huang, Dali Li, Holm H Uhlig, Aleixo M Muise
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1. April 2021 (GAIN)
Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunityCell Mol Immunol. 2021 Apr 1. >>PubMed-Link<<
Georgios Sogkas, Faranaz Atschekzei, Ignatius Ryan Adriawan, Natalia Dubrowinskaja, Torsten Witte, Reinhold Ernst Schmidt
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24. March 2021 (GAIN)
Immunogenicity and safety of anti-SARS-CoV-2 mRNA vaccines in patients with chronic inflammatory conditions and immunosuppressive therapy in a monocentric cohortAnn Rheum Dis. 2021 Mar 24. >>PubMed-Link<<
Ulf M Geisen, Dennis K Berner, Florian Tran, Melike Sümbül, Lena Vullriede, Maria Ciripoi, Hayley M Reid, Annika Schaffarzyk, Ann C Longardt, Jeanette Franzenburg, Paula Hoff, Jan H Schirmer, Rainald Zeuner, Anette Friedrichs, Andrea Steinbach, Christine Knies, Robert Dh Markewitz, Peter J Morrison, Sascha Gerdes, Stefan Schreiber, Bimba F Hoyer
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20. March 2021 (GAIN)
Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotypeBiomed J. 2021 Mar 20. >>PubMed-Link<<
Laura Faletti, Stephan Ehl, Maximilian Heeg
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27. February 2021 (GAIN)
Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP DeficiencyJ Clin Immunol. 2021 Feb 27. >>PubMed-Link<<
Anna Eichinger, Horst von Bernuth, Cinzia Dedieu, Sebastian A Schroeder, Giancarlo la Marca, Michael H Albert, Fabian Hauck
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17. February 2021 (GAIN)
What can clinical immunology learn from inborn errors of epigenetic regulators?J Allergy Clin Immunol. 2021 Feb 17. >>PubMed-Link<<
Nadezhda Camacho-Ordonez, Esteban Ballestar, H Th Marc Timmers, Bodo Grimbacher
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1. January 2021 (GAIN)
Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T Cell DeficienciesTransplant Cell Ther. 2021 Jan. >>PubMed-Link<<
Manfred Hoenig, Joachim Roesler, Markus G Seidel, Michael H Albert, Fabian Hauck, Britta Maecker-Kolhoff, Britta Eiz-Vesper, Katharina Kleinschmidt, Klaus-Michael Debatin, Eva-Maria Jacobsen, Ingrid Furlan, Meinolf Suttorp, Catharina Schuetz, Ansgar S Schulz
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3. December 2020 (GAIN)
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiencyBlood. 2020 Dec 3 >>PubMed-Link<<
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, Musa Karakukcu, Dagmar Berghuis, Theresa Cole, Aditya K Gupta, Fabian Hauck, Hubert Kogler, Andy I M Hoepelman, Safa Baris, Elif Karakoc-Aydiner, Ahmet Ozen, Leo Kager, Dirk Holzinger, Michael Paulussen, Renate Krüger, Roland Meisel, Prasad T Oommen, Emma Morris, Benedicte Neven, Austen Worth, Joris van Montfrans, Pieter L A Fraaij, Sharon Choo, Figen Dogu, E Graham Davies, Siobhan Burns, Gregor Dückers, Ruy Perez Becker, Horst von Bernuth, Sylvain Latour, Maura Faraci, Marco Gattorno, Helen C Su, Qiang Pan-Hammarström, Lennart Hammarström, Michael J Lenardo, Cindy S Ma, Tim Niehues, Asghar Aghamohammadi, Nima Rezaei, Aydan Ikinciogullari, Stuart G Tangye, Arjan C Lankester, Kaan Boztug
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12. October 2020 (GAIN)
High frequency of variants in genes associated with primary immunodeficiencies in patients with rheumatic diseases with secondary hypogammaglobulinaemiaAnn Rheum Dis. 2020 Oct 12. [Epub ahead of print] >>PubMed-Link<<
Georgios Sogkas, Natalia Dubrowinskaja, Ignatius Ryan Adriawan, Manfred Anim, Torsten Witte, Reinhold E Schmidt, Faranaz Atschekzei
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3. October 2020 (GAIN)
Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T Cell DeficienciesTransplant Cell Ther. 2020 Oct 3 [Epub ahead of print] >>PubMed-Link<<
Manfred Hoenig, Joachim Roesler, Markus G Seidel, Michael H Albert, Fabian Hauck, Britta Maecker-Kolhoff, Britta Eiz-Vesper, Katharina Kleinschmidt, Klaus-Michael Debatin, Eva-Maria Jacobsen, Ingrid Furlan, Meinolf Suttorp, Catharina Schuetz, Ansgar S Schulz
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1. August 2020 (GAIN)
Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency PatientsJ Clin Immunol. 2020 Aug. [Epub ahead of print] >>PubMed-Link<<
Safa Meshaal, Rabab El Hawary, Rana Adel, Dalia Abd Elaziz, Aya Erfan, Sohilla Lotfy, Mona Hafez, Mona Hassan, Matthew Johnson, Jessica Rojas-Restrepo, Laura Gamez-Diaz, Bodo Grimbacher, Walaa Shoman, Yasmine Abdelmeguid, Jeannette Boutros, Nermeen Galal, Nancy El-Guindy, Aisha Elmarsafy
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1. August 2020 (GAIN)
Dynamics in protein translation sustaining T cell preparednessNat Immunol. 2020 Aug. [Epub ahead of print] >>PubMed-Link<<
Tobias Wolf, Wenjie Jin, Giada Zoppi, Ian A Vogel, Murodzhon Akhmedov, Christopher K E Bleck, Tim Beltraminelli, Jan C Rieckmann, Neftali J Ramirez, Marco Benevento, Samuele Notarbartolo, Dirk Bumann, Felix Meissner, Bodo Grimbacher, Matthias Mann, Antonio Lanzavecchia, Federica Sallusto, Ivo Kwee, Roger Geiger
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31. July 2020 (GAIN)
Altered Microbiota, Impaired Quality of Life, Malabsorption, Infection, and Inflammation in CVID Patients With DiarrhoeaFront Immunol. 2020 Jul 31. [Epub ahead of print] >>PubMed-Link<<
Cornelia M van Schewick, Christina Nöltner, Svenja Abel, Siobhan O Burns, Sarita Workman, Andrew Symes, David Guzman, Michele Proietti, Alla Bulashevska, Fernando Moreira, Veronika Soetedjo, David M Lowe, Bodo Grimbacher
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16. July 2020 (GAIN)
Bile acids regulate intestinal antigen presentation and reduce graft-versus-host disease without impairing the graft-versus-leukemia effectHaematologica. 2020 July 16. (pre-published) >>PubMed-Link<<
Eileen Haring, Franziska M Uhl, Geoffroy Andrieux, Michele Proietti, Alla Bulashevska, Barbara Sauer, Lukas M Braun, Enrique de Vega Gomez, Philipp R Esser, Stefan F Martin, Dietmar Pfeifer, Marie Follo, Annette Schmitt-Graeff, Joerg Buescher, Justus Duyster, Bodo Grimbacher, Melanie Boerries, Erika L Pearce, Robert Zeiser, Petya Apostolova
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16. July 2020 (GAIN)
Bile acids regulate intestinal antigen presentation and reduce graft-versus-host disease without impairing the graft-versus-leukemia effectHaematologica. 2020 Jul 16. [Epub ahead of print] >>PubMed-Link<<
Eileen Haring, Franziska M Uhl, Geoffroy Andrieux, Michele Proietti, Alla Bulashevska, Barbara Sauer, Lukas M Braun, Enrique de Vega Gomez, Philipp R Esser, Stefan F Martin, Dietmar Pfeifer, Marie Follo, Annette Schmitt-Graeff, Joerg Buescher, Justus Duyster, Bodo Grimbacher, Melanie Boerries, Erika L Pearce, Robert Zeiser, Petya Apostolova
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2. July 2020 (GAIN)
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP SyndromeAm J Hum Genet. 2020 Jul 2. [Epub ahead of print] >>PubMed-Link<<
Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Mingyang Lee, Nicole Cesarato, Fanny Kortüm, Sheetal Kumar, Maria Teresa Romano, Shangzhi Dai, Ran Mo, Sugirthan Sivalingam, Susanne Motameny, Yuan Wu, Xiaopeng Wang, Xinwu Niu, Songmei Geng, Dorothea Bornholdt, Peter M Kroisel, Gianluca Tadini, Scott D Walter, Fabian Hauck, Katta M Girisha, Anne-Marie Calza, Armand Bottani, Janine Altmüller, Andreas Buness, Shuxia Yang, Xiujuan Sun, Lin Ma, Kerstin Kutsche, Karl-Heinz Grzeschik, Regina C Betz, Zhimiao Lin
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27. June 2020 (GAIN)
A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis-Like HyperinflammationJ Allergy Clin Immunol Pract. 2020 Jun 27. [Epub ahead of print] >>PubMed-Link<<
Daniel F R Boehmer, Lisa M Koehler, Thomas Magg, Philipp Metzger, Meino Rohlfs, Julia Ahlfeld, Anita Rack-Hoch, Karl Reiter, Michael H Albert, Stefan Endres, Simon Rothenfusser, Christoph Klein, Lars M Koenig, Fabian Hauck
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27. June 2020 (GAIN)
A novel complete autosomal recessive STAT1 LOF variant causes immunodeficiency with hemophagocytic lymphohistiocytosis-like hyperinflammationJ Allergy Clin Immunol Pract. 2020 Jun 27 >>PubMed-Link<<
Boehmer D, Koehler L, Magg T, Metzger P, Rohlfs M, Ahlfeld J, Rack-Hoch A, Reiter K , Albert M, Endres S, Rothenfusser S, Klein C, Koenig L, Hauck F.
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15. June 2020 (GAIN)
Glucagon like peptide-2 for Intestinal stem cell and Paneth cell repair during graft-versus-host disease in mice and humans.Blood. 2020 Jun 15. Online ahead of print. >>PubMed-Link<<Norona J, Apostolova P, Schmidt D, Ihlemann R, Reischmann N, Taylor G, Köhler N, de Heer J, Heeg S, Andrieux G, Siranosian BA, Schmitt-Graeff A, Pfeifer D, Catalano A, Frew I, Proietti M, Grimbacher B, Bulashevska A, Bhatt AS, Brummer T, Clauditz TS, Zabelina T, Kroeger N, Blazar BR, Boerries M, Ayuk F, Zeiser R. -
1. June 2020 (GAIN)
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.J Exp Med. 2020 Jun 1; >> PubMed-Link <<
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A
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1. May 2020 (GAIN)
Long-term Outcome of LRBA Deficiency in 76 Patients After Various Treatment Modalities as Evaluated by the Immune Deficiency and Dysregulation Activity (IDDA) ScoreJ Allergy Clin Immunol. 2020 May. [Epub ahead of print] >>PubMed-Link<<
Victoria Katharina Tesch, Hassan Abolhassani, Bella Shadur, Joachim Zobel, Yuliya Mareika, Svetlana Sharapova, Elif Karakoc-Aydiner, Jacques G Rivière, Marina Garcia-Prat, Nicolette Moes, Filomeen Haerynck, Luis I Gonzales-Granado, Juan Luis Santos Pérez, Anna Mukhina, Anna Shcherbina , Asghar Aghamohammadi, Lennart Hammarström, Figen Dogu, Sule Haskologlu, Aydan I İkincioğulları, Sevgi Köstel Bal, Safa Baris, Sara Sebnem Kilic, Neslihan Edeer Karaca, Necil Kutukculer, Hermann Girschick, Antonios Kolios, Sevgi Keles, Vedat Uygun, Polina Stepensky, Austen Worth, Joris M van Montfrans, Anke M J Peters, Isabelle Meyts, Mehdi Adeli, Antonio Marzollo, Nurcicek Padem, Amer M Khojah, Zahra Chavoshzadeh, Magdalena Avbelj Stefanija, Shahrzad Bakhtiar, Benoit Florkin, Marie Meeths, Laura Gamez, Bodo Grimbacher, Mikko R J Seppänen, Arjan Lankester, Andrew R Gennery, Markus G Seidel, Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies
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9. April 2020 (GAIN)
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutationsJ Allergy Clin Immunol. 2020 Apr 9. [Epub ahead of print] >>PubMed-Link<<
Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti, Alla Bulashevska, Nadezhda Camacho-Ordonez, Markku Varjosalo, Matias Kinnunen, Esther de Vries, Jos W M van der Meer, Rohan Ameratunga, Chaim M Roifman, Yael D Schejter, Robin Kobbe, Timo Hautala, Faranaz Atschekzei, Reinhold E Schmidt, Claudia Schröder, Polina Stepensky, Bella Shadur, Luis A Pedroza, Michiel van der Flier, Mónica Martínez-Gallo, Luis Ignacio Gonzalez-Granado, Luis M Allende, Anna Shcherbina, Natalia Kuzmenko, Victoria Zakharova, João Farela Neves, Peter Svec, Ute Fischer, Winnie Ip, Oliver Bartsch, Safa Bar, Christoph Klein, Raif Geha, Janet Chou, Mohammed Alosaimi, Lauren Weintraub, Kaan Boztug, Tatjana Hirschmugl, Maria Marluce Dos Santos Vilela, Dirk Holzinger, Maximilian Seidl, Vassilios Lougaris, Alessandro Plebani, Laia Alsina, Monica Piquer-Gibert, Angela Deyà-Martínez, Charlotte A Slade, Asghar Aghamohammadi, Hassan Abolhassani, Lennart Hammarström, Outi Kuismin, Merja Helminen, Hana Lango Allen, James E Thaventhiran, Alexandra F Freeman, Matthew Cook, Shahrzad Bakhtiar, Mette Christiansen, Charlotte Cunningham-Rundles, Niraj C Patel, William Rae, Tim Niehues, Nina Brauer, Jaana Syrjänen, Mikko R J Seppänen, Siobhan O Burns, Paul Tuijnenburg, Taco W Kuijpers, NIHR-BioResource – Rare Diseases Consortium; Klaus Warnatz, Bodo Grimbacher
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1. April 2020 (GAIN)
Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals With 56 Distinct Heterozygous NFKB1 MutationsJ Allergy Clin Immunol. 2020 Apr. [Epub ahead of print] >>PubMed-Link<<
Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti, Alla Bulashevska, Nadezhda Camacho-Ordonez, Markku Varjosalo, Matias Kinnunen, Esther de Vries, Jos W M van der Meer, Rohan Ameratunga, Chaim M Roifman, Yael D Schejter, Robin Kobbe, Timo Hautala, Faranaz Atschekzei, Reinhold E Schmidt, Claudia Schröder, Polina Stepensky, Bella Shadur, Luis A Pedroza, Michiel van der Flier, Mónica Martínez-Gallo, Luis Ignacio Gonzalez-Granado, Luis M Allende, Anna Shcherbina, Natalia Kuzmenko, Victoria Zakharova, João Farela Neves, Peter Svec, Ute Fischer, Winnie Ip, Oliver Bartsch, Safa Barış, Christoph Klein, Raif Geha, Janet Chou, Mohammed Alosaimi, Lauren Weintraub, Kaan Boztug, Tatjana Hirschmugl, Maria Marluce Dos Santos Vilela, Dirk Holzinger, Maximilian Seidl, Vassilios Lougaris, Alessandro Plebani, Laia Alsina, Monica Piquer-Gibert, Angela Deyà-Martínez, Charlotte A Slade, Asghar Aghamohammadi, Hassan Abolhassani, Lennart Hammarström, Outi Kuismin, Merja Helminen, Hana Lango Allen, James E Thaventhiran, Alexandra F Freeman, Matthew Cook, Shahrzad Bakhtiar, Mette Christiansen, Charlotte Cunningham-Rundles, Niraj C Patel, William Rae, Tim Niehues, Nina Brauer, Jaana Syrjänen, Mikko R J Seppänen, Siobhan O Burns, Paul Tuijnenburg, Taco W Kuijpers, NIHR-BioResource – Rare Diseases Consortium; Klaus Warnatz, Bodo Grimbacher
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1. April 2020 (GAIN)
Cancer Tendency in a Patient With ZNF341 DeficiencyJ Clin Immunol. 2020 Apr. [Epub ahead of print] >>PubMed-Link<<
Sukru Cekic, Julia Maria Hartberger, Stefanie Frey-Jakobs, Huzeyfe Huriyet, Melika Bektas Hortoglu, Johanna Charlotte Neubauer, Yasin Karali, Candan Demiroz Abakay, Ozlem Saraydaroglu, Tolga Cavas, Bodo Grimbacher, Sara Sebnem Kilic
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8. March 2020 (GAIN)
Structural Noninfectious Manifestations of the Central Nervous System in Common Variable Immunodeficiency DisordersJ Allergy Clin Immunol Pract. 2020 Mar;8(3):1047-1062.e6. doi: 10.1016/j.jaip.2019.11.039. Epub 2019 Dec 16 >>PubMed-Link<<
van de Ven A, Mader I, Wolff D, Goldacker S, Fuhrer H, Rauer S, Grimbacher B, Warnatz K.
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1. March 2020 (GAIN)
Structural Noninfectious Manifestations of the Central Nervous System in Common Variable Immunodeficiency DisordersJ Allergy Clin Immunol Pract. 2020 Mar. [Epub ahead of print] >>PubMed-Link<<
Annick van de Ven, Irina Mader, Daniel Wolff, Sigune Goldacker, Hannah Fuhrer, Sebastian Rauer, Bodo Grimbacher, Klaus Warnatz
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24. January 2020 (GAIN)
Cancer Tendency in a Patient with ZNF341 DeficiencyJ Clin Immunol. 2020 Jan 24 [Epub ahead of print] >>PubMed-Link<<
Cekic S, Hartberger JM, Frey-Jakobs S, Huriyet H, Hortoglu MB, Neubauer JC, Karali Y, Abakay CD, Saraydaroglu O, Cavas T, Grimbacher B, Kilic S
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1. January 2020 (GAIN)
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunityClin Immunol. 2020 Jan [Epub ahead of print 2019 Nov 23] >>PubMed-Link<<
Sabine Jägle, Maximilian Heeg, Sarah Grün, Anne Rensing-Ehl, Maria Elena Maccari, Christian Klemann, Neil Jones, Kai Lehmberg, Claudia Bettoni, Klaus Warnatz, Bodo Grimbacher, Ariane Biebl, Uwe Schauer, Rosie Hague, Olaf Neth, Andrea Mauracher, Jana Pachlopnik Schmid, Alexandre Fabre, Larysa Kostyuchenko, Marita Führer, Myriam Ricarda Lorenz, Klaus Schwarz, Jan Rohr, Stephan Ehl
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14. November 2019 (GAIN)
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1Front Immunol. 2019 Nov 14;10:2618. doi: 10.3389/fimmu.2019.02618. eCollection 2019 >>PubMed-Link<<
Schröder C, Sogkas G, Fliegauf M, Dörk T, Liu D, Hanitsch LG, Steiner S, Scheibenbogen C, Jacobs R, Grimbacher B, Schmidt RE, Atschekzei F.
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14. November 2019 (GAIN)
Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1Front Immunol. 2019 Nov 14. [Epub ahead of print] >>PubMed-Link<<
Claudia Schröder, Georgios Sogkas, Manfred Fliegauf, Thilo Dörk, Di Liu, Leif G Hanitsch, Sophie Steiner, Carmen Scheibenbogen, Roland Jacobs, Bodo Grimbacher, Reinhold E Schmidt, Faranaz Atschekzei
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30. July 2019 (GAIN)
Editorial: The Relationship Between Cancer Predisposition and Primary ImmunodeficiencyFrontiers in Immunology, Volume: 10, Article Number 1781, Jul 30 2019
Hauck, Fabian; Gennery, Andrew R.; Seidel, Markus G.
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30. July 2019 (GAIN)
Editorial: The Relationship Between Cancer Predisposition and Primary ImmunodeficiencyFront Immunol. 2019 Jul 30. [Epub ahead of print] >>PubMed-Link<<
Fabian Hauck, Andrew R Gennery, Markus G Seidel
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30. June 2019 (GAIN)
Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiencyClinical Immunology, Vol. 203, pages 59-62, Jun 2019
von Spee-Mayer, Caroline; Koemm, Verena; Wehr, Claudia; et al. -
1. June 2019 (GAIN)
Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiencyClin Immunol. 2019 Jun. [Epub ahead of print] >>PubMed-Link<<
Caroline von Spee-Mayer, Verena Koemm, Claudia Wehr, Sigune Goldacker, Gerhard Kindle, Alla Bulashevska, Michele Proietti, Bodo Grimbacher, Stephan Ehl, Klaus Warnatz