Not logged in Human adenosine deaminase type 2 deficiency enhances NK cell activation but impairs maturation and function Belien, Jarne; De Visscher, Amber; Pillay, Bethany; Wouters, Marjon; Kienapfel, Verena; Bernaerts, Eline; Mitera, Tania; Berghmans, Nele; Dubois, Benedicte; Moens, Leen; Matthys, Patrick; Meyts, Isabelle Share Save
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Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia Koenig, Mary Kay; Leuzzi, Vincenzo; Gouider, Riadh; Yiu, Eppie M.; Pietrucha, Barbara; Stray-Pedersen, Asbjorg; Perlman, Susan L.; Wu, Steve; Burgers, Trudy; Borgohain, Rupam; Kandadai, Rukmini Mridula; Meyts, Isabelle; Bucciol, Giorgia; Udwadia-Hegde, Anaita; Roberts, Donna; Dane, Aaron; Roden, Maureen; Thye, Dirk; Horn, Biljana; Lederman, Howard M.; Whitehouse, William P. Share Save
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans Riller, Quentin; Sorin, Boris; Courteille, Charline; Ho-Nhat, Duong; Le Voyer, Tom; Debray, Jean-Christophe; Stolzenberg, Marie-Claude; Schmutz, Muriel; Pelle, Olivier; Becquard, Thomas; Riestra, Maria Rodrigo; Berteloot, Laureline; Migaud, Melanie; Delage, Laure; Jeanpierre, Marie; Boussard, Charlotte; Brunaud, Camille; Magerus, Aude; Bretot, Charles; Michel, Victor; Roux, Camille; Picard, Capucine; Masson, Cecile; Bole-Feysot, Christine; Cagnard, Nicolas; Corneau, Aurelien; Meyts, Isabelle; Baud, Veronique; Fischer, Alain; Dejardin, Emmanuel; Boulanger, Cecile; Neven, Benedicte; Rieux-Laucat, Frederic Share Save
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress Iannuzzo, Alberto; Delafontaine, Selket; El Masri, Rana; Tacine, Rachida; Prencipe, Giusi; Nishitani-Isa, Masahiko; van Wijck, Rogier T. A.; Bhuyan, Farzana; de Jesus Rasheed, Adriana A.; Coppola, Simona; van Daele, Paul L. A.; Insalaco, Antonella; Goldbach-Mansky, Raphaela; Yasumi, Takahiro; Tartaglia, Marco; Meyts, Isabelle; Delon, Jerome Share Save
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning Shadur, Bella; Nassereddin, Adeeb; Zaidman, Irina; Schejter, Yael Dinur; Even-Or, Ehud; Berkun, Yackov; Meyts, Isabelle; Hmedat, Hatem; Sulaiman, Ashraf; Tangye, Stuart G.; Stepensky, Polina Share Save
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency Chan, Yi-Hao; Lundberg, Vanja; Le Pen, Jeremie; Yuan, Jiayi; Lee, Danyel; Pinci, Francesca; Volpi, Stefano; Nakajima, Koji; Bondet, Vincent; Akesson, Sanna; Khobrekar, Noopur V.; Bodansky, Aaron; Du, Likun; Melander, Tina; Mariaggi, Alice-Andree; Seeleuthner, Yoann; Saleh, Tariq Shikh; Chakravarty, Debanjana; Marits, Per; Dobbs, Kerry; Vonlanthen, Sofie; Hennings, Viktoria; Thorn, Karolina; Rinchai, Darawan; Bizien, Lucy; Chaldebas, Matthieu; Sobh, Ali; Ozcelik, Tayfun; Keles, Sevgi; AlKhater, Suzan A.; Prando, Carolina; Meyts, Isabelle; Wilson, Michael R.; Rosain, Jeremie; Jouanguy, Emmanuelle; Aubart, Melodie; Abel, Laurent; Mogensen, Trine H.; Pan-Hammarstrom, Qiang; Gao, Daxing; Duffy, Darragh; Cobat, Aurelie; Berg, Stefan; Notarangelo, Luigi D.; Harschnitz, Oliver; Rice, Charles M.; Studer, Lorenz; Casanova, Jean-Laurent; Ekwall, Olov; Zhang, Shen-Ying Share Save
Human ADA2 Deficiency: Ten Years Later Wouters, Marjon; Ehlers, Lisa; Dzhus, Mariia; Kienapfel, Verena; Bucciol, Giorgia; Delafontaine, Selket; Hombrouck, Anneleen; Pillay, Bethany; Moens, Leen; Meyts, Isabelle Share Save
Charting a course for global progress in PIDs by 2030-proceedings from the IPOPI global multi-stakeholders' summit (September 2023) Van Coillie, Samya; Prevot, Johan; Sanchez-Ramon, Silvia; Lowe, David M.; Borg, Michael; Autran, Brigitte; Segundo, Gesmar; Pecoraro, Antonio; Garcelon, Nicolas; Boersma, Cornelis; Silva, Susana L.; Drabwell, Jose; Quinti, Isabella; Meyts, Isabelle; Ali, Adli; Burns, Siobhan O.; van Hagen, Martin; Pergent, Martine; Mahlaoui, Nizar Share Save
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A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome Della Mina, Erika; Jackson, Katherine J. L.; Crawford, Alexander J. I.; Faulks, Megan L.; Pathmanandavel, Karrnan; Acquarola, Nicolino; O'Sullivan, Michael; Kerre, Tessa; Naesens, Leslie; Claes, Karlien; Goodnow, Christopher C.; Haerynck, Filomeen; Kracker, Sven; Meyts, Isabelle; D'Orsogna, Lloyd J.; Ma, Cindy S.; Tangye, Stuart G. Share Save
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency Migliavacca, Maddalena; Barzaghi, Federica; Fossati, Claudia; Rancoita, Paola M. V.; Gabaldo, Michela; Dionisio, Francesca; Giannelli, Stefania; Salerio, Federica Andrea; Ferrua, Francesca; Tucci, Francesca; Calbi, Valeria; Gallo, Vera; Recupero, Salvatore; Consiglieri, Giulia; Pajno, Roberta; Sambuco, Maria; Priolo, Alessio; Ferri, Chiara; Garella, Vittoria; Monti, Ilaria; Silvani, Paolo; Darin, Silvia; Casiraghi, Miriam; Corti, Ambra; Zancan, Stefano; Levi, Margherita; Cesana, Daniela; Carlucci, Filippo; Pituch-Noworolska, Anna; Abdelaziz, Dalia; Baumann, Ulrich; Finocchi, Andrea; Cancrini, Caterina; Ladogana, Saverio; Meinhardt, Andrea; Meyts, Isabelle; Montin, Davide; Notarangelo, Lucia Dora; Porta, Fulvio; Pasquet, Marlene; Speckmann, Carsten; Stepensky, Polina; Tommasini, Alberto; Rabusin, Marco; Karakas, Zeynep; Galicchio, Miguel; Leonardi, Lucia; Duse, Marzia; Guner, Sukru Nail; Di Serio, Clelia; Ciceri, Fabio; Bernardo, Maria Ester; Aiuti, Alessandro; Cicalese, Maria Pia Share Save
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children Bastard, Paul; Gervais, Adrian; Taniguchi, Maki; Saare, Liisa; Sarekannu, Karita; Le Voyer, Tom; Philippot, Quentin; Rosain, Jeremie; Bizien, Lucy; Asano, Takaki; Garcia-Prat, Marina; Parra-Martinez, Alba; Migaud, Melanie; Tsumura, Miyuki; Conti, Francesca; Belot, Alexandre; Riviere, Jacques G.; Morio, Tomohiro; Tanaka, Junko; Javouhey, Etienne; Haerynck, Filomeen; Duvlis, Sotirija; Ozcelik, Tayfun; Keles, Sevgi; Tandjaoui-Lambiotte, Yacine; Escoda, Simon; Husain, Maya; Pan-Hammarstrom, Qiang; Hammarstrom, Lennart; Ahlijah, Gloria; Haidar, Anthony Abi; Soudee, Camille; Arseguel, Vincent; Abolhassani, Hassan; Sahanic, Sabina; Tancevski, Ivan; Nukui, Yoko; Hayakawa, Seiichi; Chrousos, George P.; Michos, Athanasios; Tatsi, Elizabeth-Barbara; Filippatos, Filippos; Rodriguez-Palmero, Agusti; Troya, Jesus; Tipu, Imran; Meyts, Isabelle; Roussel, Lucie; Ostrowski, Sisse Rye; Schidlowski, Laire; Prando, Carolina; Condino-Neto, Antonio; Cheikh, Nathalie; Bousfiha, Ahmed A.; El Bakkouri, Jalila; Peterson, Part; Pujol, Aurora; Levy, Romain; Quartier, Pierre; Vinh, Donald C.; Boisson, Bertrand; Beziat, Vivien; Zhang, Shen-Ying; Borghesi, Alessandro; Pession, Andrea; Andreakos, Evangelos; Marr, Nico; Mentis, Alexios-Fotios A.; Mogensen, Trine H.; Rodriguez-Gallego, Carlos; Soler-Palacin, Pere; Colobran, Roger; Tillmann, Vallo; Neven, Benedicte; Trouillet-Assant, Sophie; Brodin, Petter; Abel, Laurent; Jouanguy, Emmanuelle; Zhang, Qian; Martinon-Torres, Federico; Salas, Antonio; Gomez-Carballa, Alberto; Gonzalez-Granado, Luis I.; Kisand, Kai; Okada, Satoshi; Puel, Anne; Cobat, Aurelie; Casanova, Jean-Laurent Share Save
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