Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation
HAEMATOLOGICA (2020)
期刊
HAEMATOLOGICA
卷 105, 期 10, 页码 E488-E492出版社
FERRATA STORTI FOUNDATION
关键词
类别
资金
- European Research Council (ERC) [820074]
- Vienna Science and Technology Fund [WWTF-LS16-060]
- Cell Communication in Health and Disease programme (CCHD, Medical University of Vienna)
- DOC fellowship of the Austrian Academy of Sciences [OAW 25225]
- Austrian Science Fund FWF Hertha Firnberg program [T934-B30]
- Deutsche Forschungsgemeinschaft [SFB1160]
- European Research Council (ERC) [820074] Funding Source: European Research Council (ERC)
- Austrian Science Fund (FWF) [T934] Funding Source: Austrian Science Fund (FWF)
作者
我是这篇论文的作者
推荐
A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
Henry Y. Lu, Robert Sertori, Alejandra Contreras, Mark Hamer, Melina Messing, Kate L. Del Bel, Elena Lopez-Rangel, Edmond S. Chan, Wingfield Rehmus, Joshua D. Milner, Kelly M. McNagny, Anna Lehman, David L. Wiest, Stuart E. Turvey
FRONTIERS IN IMMUNOLOGY (2021)
Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variants
Emily S. J. Edwards, Samar Ojaimi, James Ngui, Go Hun Seo, Jihye Kim, Sanjeev Chunilal, Deborah Yablonski, Robyn E. O'Hehir, Menno C. van Zelm
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2023)
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation
Ottavia M. Delmonte, Jenna R. E. Bergerson, Tomoki Kawai, Hye Sun Kuehn, David H. McDermott, Irene Cortese, Michael T. Zimmermann, A. Kerry Dobbs, Marita Bosticardo, Danielle Fink, Shamik Majumdar, Boaz Palterer, Francesca Pala, Nikita R. Dsouza, Marie Pouzolles, Naomi Taylor, Katherine R. Calvo, Stephen R. Daley, Daniel Velez, Anahita Agharahimi, Katherine Myint-Hpu, Lesia K. Dropulic, Jonathan J. Lyons, Steven M. Holland, Alexandra F. Freeman, Rajarshi Ghosh, Morgan B. Similuk, Julie E. Niemela, Jennifer Stoddard, Douglas B. Kuhns, Raul Urrutia, Sergio D. Rosenzweig, Magdalena A. Walkiewicz, Philip M. Murphy, Luigi D. Notarangelo
BLOOD (2021)
Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility
Carolina Villarroya-Beltri, Ana Osorio, Raul Torres-Ruiz, David Gomez-Sanchez, Marianna Trakala, Agustin Sanchez-Belmonte, Fatima Mercadillo, Begona Hurtado, Borja Pitarch, Almudena Hernandez-Nunez, Antonio Gomez-Caturla, Daniel Rueda, Jose Perea, Sandra Rodriguez-Perales, Marcos Malumbres, Miguel Urioste
SCIENCE ADVANCES (2022)
Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity
Tala Shahin, Hye Sun Kuehn, Mohamed R. Shoeb, Lisa Gawriyski, Sarah Giuliani, Peter Repiscak, Birgit Hoeger, Ozlem Yuce Petronczki, Sevgi Kostel Bal, Samaneh Zoghi, Jasmin Dmytrus, Davide Seruggia, Irinka Castanon, Nima Rezaei, Markku Varjosalo, Florian Halbritter, Sergio D. Rosenzweig, Kaan Boztug
SCIENCE IMMUNOLOGY (2021)
Dissection of transcriptome dysregulation and immune characterization in women with germline BRCA1 mutation at single-cell resolution
Xuexin Yu, Wanrun Lin, Alexandra Spirtos, Yan Wang, Hao Chen, Jianfeng Ye, Jessica Parker, Ci Ci Liu, Yiying Wang, Gabriella Quinn, Feng Zhou, Setsuko K. Chambers, Cheryl Lewis, Jayanthi Lea, Bo Li, Wenxin Zheng
BMC MEDICINE (2022)
Immune dysregulation associated with co-occurring germline CBL and SH2B3 variants
Francesco Baccelli, Davide Leardini, Edoardo Muratore, Daria Messelodi, Salvatore Nicola Bertuccio, Maria Chiriaco, Caterina Cancrini, Francesca Conti, Fausto Castagnetti, Lucia Pedace, Andrea Pession, Ayami Yoshimi, Charlotte Niemeyer, Marco Tartaglia, Franco Locatelli, Riccardo Masetti
HUMAN GENOMICS (2022)
Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center
Tariq Al Farsi, Khwater Ahmed, Jalila Alshekaili, Mahmood Al Kindi, Matthew Cook, Aliya Al-Hosni, Zainab Ansari, Iman Nasr, Nashat Al Sukaiti
FRONTIERS IN IMMUNOLOGY (2022)
Clinical and immunological characteristics of five patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China-expanding the atypical phenotypes
Yu Huang, Shuyu Fang, Ting Zeng, Junjie Chen, Lu Yang, Gan Sun, Rongxin Dai, Yunfei An, Xuemei Tang, Ying Dou, Xiaodong Zhao, Lina Zhou
FRONTIERS IN IMMUNOLOGY (2022)
Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder
Beibei Wu, Laura Rice, Jennifer Shrimpton, Dylan Lawless, Kieran Walker, Clive Carter, Lynn McKeown, Rashida Anwar, Gina M. Doody, Sonal Srikanth, Yousang Gwack, Sinisa Savic
ELIFE (2021)
Targeted Proteomics Reveals Inflammatory Pathways that Classify Immune Dysregulation in Common Variable Immunodeficiency
Roos-Marijn Berbers, Julia Drylewicz, Pauline M. Ellerbroek, Joris M. van Montfrans, Virgil A. S. H. Dalm, P. Martin van Hagen, Baerbel Keller, Klaus Warnatz, Annick van de Ven, Jaap M. van Laar, Stefan Nierkens, Helen L. Leavis
JOURNAL OF CLINICAL IMMUNOLOGY (2021)
Use of Germline BRCA Testing in Patients With Ovarian Cancer and Commercial Insurance
Stephanie Cham, Mary Beth Landrum, Nancy L. Keating, Joanne Armstrong, Alexi A. Wright
JAMA NETWORK OPEN (2022)
Germline variants associated with toxicity to immune checkpoint blockade
Stefan Groha, Sarah Abou Alaiwi, Wenxin Xu, Vivek Naranbhai, Amin H. H. Nassar, Ziad Bakouny, Talal El Zarif, Renee Maria Saliby, Guihong Wan, Ahmad Rajeh, Elio Adib, Pier V. V. Nuzzo, Andrew L. L. Schmidt, Chris Labaki, Biagio Ricciuti, Joao Victor Alessi, David A. A. Braun, Sachet A. A. Shukla, Tanya E. E. Keenan, Eliezer Van Allen, Mark M. M. Awad, Michael Manos, Osama Rahma, Leyre Zubiri, Alexandra-Chloe Villani, Benjamin Fairfax, Christian Hammer, Zia Khan, Kerry Reynolds, Yevgeniy Semenov, Deborah Schrag, Kenneth L. L. Kehl, Matthew L. L. Freedman, Toni K. K. Choueiri, Alexander Gusev
NATURE MEDICINE (2022)
Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature
Aleksandra Szczawinska-Poplonyk, Natalia Poplonyk, Marek Niedziela, Anna Sowinska-Seidler, Pawel Sztromwasser, Aleksander Jamsheer, Monika Obara-Moszynska
FRONTIERS IN PEDIATRICS (2022)
Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China
Lingdi Yin, Jishu Wei, Zipeng Lu, Shimeng Huang, Hao Gao, Jianmin Chen, Feng Guo, Min Tu, Bin Xiao, Chunhua Xi, Kai Zhang, Qiang Li, Junli Wu, Wentao Gao, Kuirong Jiang, Jun Yu, Yi Miao
JAMA NETWORK OPEN (2022)
Molecular characterization and clinical outcome of B-cell precursor acute lymphoblastic leukemia with IG-MYC rearrangement
Simon Bomken, Amir Enshaei, Edward C. Schwalbe, Aneta Mikulasova, Yunfeng Dai, Masood Zaka, Kent T. M. Fung, Matthew Bashton, Huezin Lim, Lisa Jones, Nefeli Karataraki, Emily Winterman, Cody Ashby, Andishe Attarbaschi, Yves Bertrand, Jutta Bradtke, Barbara Buldini, G. A. Amos Burke, Giovanni Cazzaniga, Gudrun Goehring, Hesta A. de Groot-Kruseman, Claudia Haferlach, Luca Lo Nigro, Mayur Parihar, Adriana Plesa, Emma Seaford, Edwin Sonneveld, Sabine Strehl, Vincent H. J. van der Velden, Vikki Rand, Stephen P. Hunger, Christine J. Harrison, Chris M. Bacon, Frederik W. van Delft, Mignon L. Loh, John Moppett, Josef Vormoor, Brian A. Walker, Anthony V. Moorman, Lisa J. Russell
HAEMATOLOGICA (2023)
Incidence and Risk Factors of Venous Thromboembolism in Childhood Acute Lymphoblastic Leukaemia - a Population-Based Analysis of the Austrian Berlin-Frankfurt-Munster (BFM) Study Group
Anna Gidl, Anna Fuereder, Martin Benesch, Michael Dworzak, Gernot Engstler, Neil Jones, Gabriele Kropshofer, Ulrike Poetschger, Fiona Poyer, Melanie Tamesberger, Volker Witt, Georg Mann, Andishe Attarbaschi
PEDIATRIC HEMATOLOGY AND ONCOLOGY (2023)
Outcomes of Childhood Noninfant Acute Lymphoblastic Leukemia With 11q23/KMT2A Rearrangements in a Modern Therapy Era: A Retrospective International Study
Andishe Attarbaschi, Anja Moericke, Christine J. Harrison, Georg Mann, Andre Baruchel, Barbara De Moerloose, Valentino Conter, Meenakshi Devidas, Sarah Elitzur, Gabriele Escherich, Stephen P. Hunger, Keizo Horibe, Atsushi Manabe, Mignon L. Loh, Rob Pieters, Kjeld Schmiegelow, Lewis B. Silverman, Jan Stary, Ajay Vora, Ching-Hon Pui, Martin Schrappe, Martin Zimmermann
JOURNAL OF CLINICAL ONCOLOGY (2023)
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis
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, Rafael J. Arguello, Matthias Farlik, Ahmet Ozen, Edgar Serfling, Loic Dupre, Christoph Bock, Florian Halbritter, J. Thomas Hannich, Irinka Castanon, Michael J. Kraakman, Safa Baris, Kaan Boztug
BLOOD (2023)
Deciphering actin remodelling in immune cells through the prism of actin-related inborn errors of immunity
Loic Dupre, Guilhen Prunier
EUROPEAN JOURNAL OF CELL BIOLOGY (2023)
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
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 Avila Polo, Rocio Cabrera-Perez, Sevgi Kostel Bal, Laurene Pfajfer, Bernhard Ransmayr, Anna-Katharina Mautner, Ryohei Kondo, Anna Tinnacher, Michael Caldera, Michael Schuster, Cecilia Dominguez Conde, Rene Platzer, Elisabeth Salzer, Thomas Boyer, Han G. Brunner, Judith E. Nooitgedagt-Frons, Estibaliz Iglesias, Angela Deya-Martinez, Marisol Camacho-Lovillo, Joerg Menche, Christoph Bock, Johannes B. Huppa, Winfried F. Pickl, Martin Distel, Jeffrey A. Yoder, David Traver, Karin R. Engelhardt, Tobias Linden, Leo Kager, J. Thomas Hannich, Alexander Hoischen, Sophie Hambleton, Sabine Illsinger, Lydie Da Costa, Kerstin Kutsche, Zahra Chavoshzadeh, Jaap D. van Buul, Jordi Anton, Joan Calzada-Hernandez, Olaf Neth, Julien Viaud, Akihiko Nishikimi, Loic Dupre, Kaan Boztug
NEW ENGLAND JOURNAL OF MEDICINE (2023)
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient
Negar Moradian, Samaneh Zoghi, Elham Rayzan, Simin Seyedpour, Raul Jimenez Heredia, Kaan Boztug, Nima Rezaei
ALLERGY ASTHMA AND CLINICAL IMMUNOLOGY (2023)
Antimicrobial use in pediatric oncology and hematology in Germany and Austria, 2020/2021: a cross-sectional, multi-center point-prevalence study with a multi-step qualitative adjudication process
Cihan Papan, Katharina Reifenrath, Katharina Last, Andishe Attarbaschi, Norbert Graf, Andreas H. Groll, Johannes Huebner, Hans-Juergen Laws, Thomas Lehrnbecher, Johannes G. Liese, Luise Martin, Tobias Tenenbaum, Simon Vieth, Ulrich von Both, Gudrun Wagenpfeil, Stefan Weichert, Markus Hufnagel, Arne Simon
LANCET REGIONAL HEALTH-EUROPE (2023)
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3
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
BRITISH JOURNAL OF HAEMATOLOGY (2023)
Low-dose Bisphenol A exposure alters the functionality and cellular environment in a human cardiomyocyte model
Federica Lamberto, Bachuki Shashikadze, Radwa Elkhateib, Salvo Danilo Lombardo, Alex Horanszky, Andrea Balogh, Kornel Kistamas, Melinda Zana, Joerg Menche, Thomas Froehlich, Andras Dinnyes
ENVIRONMENTAL POLLUTION (2023)
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases
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, Juergen Brunner, Kaan Boztug
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2023)
Response-adapted omission of radiotherapy in children and adolescents with early-stage classical Hodgkin lymphoma and an adequate response to vincristine, etoposide, prednisone, and doxorubicin (EuroNet-PHL-C1): a titration study
Christine Mauz-Koerholz, Judith Landman-Parker, Ana Fernandez-Teijeiro, Andishe Attarbaschi, Walentyna Balwierz, Joerg M. Bartelt, Auke Beishuizen, Sabah Boudjemaa, Michaela Cepelova, Francesco Ceppi, Alexander Claviez, Stephen Daw, Karin Dieckmann, Alexander Fossa, Stefan Gattenloehner, Thomas Georgi, Lisa L. Hjalgrim, Andrea Hraskova, Jonas Karlen, Lars Kurch, Thierry Leblanc, Georg Mann, Francoise Montravers, Jane Pears, Tanja Pelz, Vladan Rajic, Alan D. Ramsay, Dietrich Stoevesandt, Anne Uyttebroeck, Dirk Vordermark, Dieter Koerholz, Dirk Hasenclever, William H. Wallace, Regine Kluge
LANCET ONCOLOGY (2023)
Evaluation of thymopoiesis in healthy Turkish children aged 0-6 years
Akif Kavgaci, Deniz Bayrakoglu, Sevgi Kostel Bal, Sule Haskologlu, Nisa Eda Cullas Ilarslan, Seda Topcu, Emel Okulu, Candan Islamoglu, Meltem Arikan, Figen Dogu, Kamile Aydan Ikinciogullari
TURKISH JOURNAL OF PEDIATRICS (2023)
Inactivation of TRPM7 Kinase Targets AKT Signaling and Cyclooxygenase-2 Expression in Human CML Cells
Birgit Hoeger, Wiebke Nadolni, Sarah Hampe, Kilian Hoelting, Marco Fraticelli, Nadja Zaborsky, Anna Madlmayr, Viktoria Sperrer, Laura Fraticelli, Lynda Addington, Dirk Steinritz, Vladimir Chubanov, Roland Geisberger, Richard Greil, Andreas Breit, Ingrid Boekhoff, Thomas Gudermann, Susanna Zierler
FUNCTION (2023)