Recent advances in primary immunodeficiency: from molecular diagnosis to treatment [version 1; peer review: 3 approved] 由 Giorgia Bucciol, Isabelle Meyts

獲取全文

Editorial: EBV Infection and Human Primary Immune Deficiencies 由 Jeffrey I. Cohen, Isabelle Meyts

獲取全文

Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations 由 Hasan Hashem, Dimana Dimitrova, Isabelle Meyts

獲取全文

Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives [version 1; referees: 2 approved] 由 Barbara Bosch, Yuval Itan, Isabelle Meyts

獲取全文

Rituximab and improved nodular regenerative hyperplasia-associated non-cirrhotic liver disease in common variable immunodeficiency: a case report and literature study 由 Willem Roosens, Frederik Staels, Sien Van Loo, Stephanie Humblet-Baron, Isabelle Meyts, Isabelle Meyts, Hadewijch De Samblanx, Chris Verslype, Hannah van Malenstein, Hannah van Malenstein, Schalk van der Merwe, Schalk van der Merwe, Wim Laleman, Wim Laleman, Rik Schrijvers

獲取全文

Case report: Myocarditis in congenital STAT1 gain-of function 由 Frederik Staels, Frederik Staels, Willem Roosens, Simone Giovannozzi, Simone Giovannozzi, Leen Moens, Jan Bogaert, Cecilia Iglesias-Herrero, Cecilia Iglesias-Herrero, Rik Gijsbers, Xavier Bossuyt, Glynis Frans, Adrian Liston, Adrian Liston, Stephanie Humblet-Baron, Isabelle Meyts, Isabelle Meyts, Lucas Van Aelst, Rik Schrijvers

獲取全文

Primary Immunodeficiencies: A Decade of Progress and a Promising Future 由 Isabelle Meyts, Isabelle Meyts, Aziz Bousfiha, Aziz Bousfiha, Carla Duff, Carla Duff, Surjit Singh, Surjit Singh, Surjit Singh, Yu Lung Lau, Antonio Condino-Neto, Antonio Condino-Neto, Antonio Condino-Neto, Antonio Condino-Neto, Liliana Bezrodnik, Liliana Bezrodnik, Adli Ali, Mehdi Adeli, Mehdi Adeli, Jose Drabwell

獲取全文

Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe 由 Maurizio Scarpa, James R. Bonham, Carlo Dionisi-Vici, Johan Prevot, Martine Pergent, Isabelle Meyts, Nizar Mahlaoui, Peter C.J.I. Schielen

獲取全文

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults 由 Olivier Lambotte, Bénédicte Neven, Lionel Galicier, Aude Magerus-Chatinet, Nicolas Schleinitz, Olivier Hermine, Isabelle Meyts, Capucine Picard, Bertrand Godeau, Alain Fischer, Frédéric Rieux-Laucat

獲取全文

Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory 由 Lander Bosch, Barbara Bosch, Kris De Boeck, Tim Nawrot, Isabelle Meyts, Dominique Vanneste, Cleonice Alexandre Le Bourlegat, Julio Croda, Luiz Vicente Ribeiro Ferreira da Silva Filho

獲取全文

The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities — proceedings from the IPOPI global multi-stakeholders’ summit (June 2022) 由 Susan Tadros, Johan Prévot, Isabelle Meyts, Isabelle Meyts, Silvia Sánchez-Ramón, Nahla H. Erwa, Alain Fischer, Alain Fischer, Alain Fischer, Alain Fischer, Guillaume Lefevre, Guillaume Lefevre, Matthew Hotchko, Peter M. Jaworski, Helen Leavis, Cornelis Boersma, Cornelis Boersma, Cornelis Boersma, Jose Drabwell, Martin van Hagen, Martin van Hagen, Samya Van Coillie, Martine Pergent, Siobhan O. Burns, Nizar Mahlaoui, Nizar Mahlaoui, Nizar Mahlaoui

獲取全文

Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations 由 Frederik Staels, Frederik Staels, Kerstin De Keukeleere, Kerstin De Keukeleere, Matias Kinnunen, Salla Keskitalo, Flaminia Lorenzetti, Flaminia Lorenzetti, Michiel Vanmeert, Teresa Prezzemolo, Emanuela Pasciuto, Emanuela Pasciuto, Eveline Lescrinier, Xavier Bossuyt, Margaux Gerbaux, Mathijs Willemsen, Julika Neumann, Sien Van Loo, Anniek Corveleyn, Karen Willekens, Ingeborg Stalmans, Isabelle Meyts, Isabelle Meyts, Adrian Liston, Adrian Liston, Stephanie Humblet-Baron, Mikko Seppänen, Markku Varjosalo, Rik Schrijvers, Rik Schrijvers

獲取全文

Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome 由 Giorgia Bucciol, David Cassiman, Tania Roskams, Marleen Renard, Ilse Hoffman, Peter Witters, Rik Schrijvers, Heidi Schaballie, Barbara Bosch, Maria Caterina Putti, Olivier Gheysens, Noel Knops, Marc Gewillig, Djalila Mekahli, Jacques Pirenne, Isabelle Meyts

獲取全文

Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature 由 Frederik Staels, Frederik Staels, Albrecht Betrains, Peter Doubel, Mathijs Willemsen, Mathijs Willemsen, Vincent Cleemput, Steven Vanderschueren, Anniek Corveleyn, Isabelle Meyts, Ben Sprangers, Yanick J. Crow, Yanick J. Crow, Stephanie Humblet-Baron, Adrian Liston, Adrian Liston, Rik Schrijvers, Rik Schrijvers

獲取全文

Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease 由 Peter Janssens, Jean-Paul Decuypere, Stéphanie De Rechter, Luc Breysem, Dorien Van Giel, Jaak Billen, An Hindryckx, Luc De Catte, Marcella Baldewijns, Kathleen B.M. Claes, Karl M. Wissing, Koen Devriendt, Bert Bammens, Isabelle Meyts, Vicente E. Torres, Rudi Vennekens, Djalila Mekahli

獲取全文

Fifth Percentile Cutoff Values for Antipneumococcal Polysaccharide and Anti-Salmonella typhi Vi IgG Describe a Normal Polysaccharide Response 由 Heidi Schaballie, Barbara Bosch, Barbara Bosch, Rik Schrijvers, Marijke Proesmans, Kris De Boeck, Mieke Nelly Boon, François Vermeulen, Natalie Lorent, Doreen Dillaerts, Glynis Frans, Leen Moens, Inge Derdelinckx, Willy Peetermans, Bjørn Kantsø, Charlotte Svaerke Jørgensen, Marie-Paule Emonds, Xavier Bossuyt, Isabelle Meyts

獲取全文

Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress 由 Alberto Iannuzzo, Selket Delafontaine, Rana El Masri, Rachida Tacine, Giusi Prencipe, Masahiko Nishitani-Isa, Rogier T. A. van Wijck, Farzana Bhuyan, Adriana A. de Jesus Rasheed, Simona Coppola, Paul L. A. van Daele, Antonella Insalaco, Raphaela Goldbach-Mansky, Takahiro Yasumi, Marco Tartaglia, Isabelle Meyts, Jérôme Delon

獲取全文

Distinct antibody repertoires against endemic human coronaviruses in children and adults 由 Taushif Khan, Mahbuba Rahman, Fatima Al Ali, Susie S. Y. Huang, Manar Ata, Qian Zhang, Paul Bastard, Zhiyong Liu, Emmanuelle Jouanguy, Vivien Béziat, Aurélie Cobat, Gheyath K. Nasrallah, Hadi M. Yassine, Maria K. Smatti, Amira Saeed, Isabelle Vandernoot, Jean-Christophe Goffard, Guillaume Smits, Isabelle Migeotte, Filomeen Haerynck, Isabelle Meyts, Laurent Abel, Jean-Laurent Casanova, Mohammad R. Hasan, Nico Marr

獲取全文

Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia 由 Mary Kay Koenig, Vincenzo Leuzzi, Riadh Gouider, Riadh Gouider, Eppie M. Yiu, Eppie M. Yiu, Barbara Pietrucha, Asbjørg Stray-Pedersen, Susan L. Perlman, Steve Wu, Trudy Burgers, Rupam Borgohain, Rukmini Mridula Kandadai, Isabelle Meyts, Giorgia Bucciol, Anaita Udwadia-Hegde, Ravi Yadav, Donna Roberts, Aaron Dane, Maureen Roden, Dirk Thye, Biljana Horn, Howard M. Lederman, William P. Whitehouse

獲取全文

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes 由 Bergithe E. Oftedal, Kristian Assing, Safa Baris, Stephanie L. Safgren, Isik S. Johansen, Marianne Antonius Jakobsen, Dusica Babovic-Vuksanovic, Katherine Agre, Eric W. Klee, Emina Majcic, Elise M.N. Ferré, Monica M. Schmitt, Tom DiMaggio, Lindsey B. Rosen, Muhammad Obaidur Rahman, Dionisios Chrysis, Aristeidis Giannakopoulos, Maria Tallon Garcia, Luis Ignacio González-Granado, Katherine Stanley, Jessica Galant-Swafford, Pim Suwannarat, Isabelle Meyts, Michail S. Lionakis, Eystein S. Husebye

獲取全文