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BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review Baldini, Letizia; Keller, Baerbel; Dewitte, Lisa; Passarelli, Chiara; Ginevrino, Monia; Carli, Diana; Montin, Davide; Bossuyt, Xavier; Warnatz, Klaus; Licciardi, Francesco Share Save
CD21low B cells reveal a unique glycosylation pattern with hypersialylation and hyperfucosylation Felixberger, Peter Tobias; Andrieux, Geoffroy; Maul-Pavicic, Andrea; Goldacker, Sigune; Harder, Ina; Gutenberger, Sylvia; Landry, Jonathan J. M.; Benes, Vladimir; Jakob, Till Fabian; Boerries, Melanie; Nitschke, Lars; Voll, Reinhard Edmund; Warnatz, Klaus; Keller, Baerbel Share Save
Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework Nieto-Patlan, Alejandro; Ross, Justyne; Mohan, Shruthi; Paczosa, Michelle K.; Soliman, Rasha; Sarmento, Olga; Aliu, Ermal; Thiyagarajan, Lavvina; Chandra, Anita; Picard, Capucine; Warnatz, Klaus; Jolles, Stephen; Lesmana, Harry; Maglione, Paul J.; Platt, Craig D.; Sediva, Anna; Sullivan, Kathleen E.; Zhang, Kejian; Raval, Forum; Tangye, Stuart G.; Abraham, Roshini S. Share Save
COVID-19 progression and convalescence in common variable immunodeficiency patients show dysregulated adaptive immune responses and persistent type I interferon and inflammasome activation Rodriguez-Ubreva, Javier; Calafell-Segura, Josep; Calvillo, Celia L.; Keller, Baerbel; Ciudad, Laura; Handfield, Louis-Francois; de la Calle-fabregat, Carlos; Godoy-Tena, Gerard; Andres-Leon, Eduardo; Hoo, Regina; Porter, Tarryn; Prigmore, Elena; Hofmann, Maike; Decker, Annegrit; Martin, Javier; Vento-Tormo, Roser; Warnatz, Klaus; Ballestar, Esteban Share Save
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IL-7-dependent and -independent lineages of IL-7R-dependent human T cells Arango-Franco, Carlos A.; Ogishi, Masato; Unger, Susanne; Delmonte, Ottavia M.; Orrego, Julio Cesar; Yatim, Ahmad; Velasquez-Lopera, Margarita M.; Zea-Vera, Andres F.; Bohlen, Jonathan; Chbihi, Marwa; Fayand, Antoine; Sanchez, Juan Pablo; Rojas, Julian; Seeleuthner, Yoann; Le Voyer, Tom; Philippot, Quentin; Payne, Kathryn J.; Gervais, Adrian; Erazo-Borras, Lucia, V; Correa-Londono, Luis A.; Cederholm, Axel; Gallon-Duque, Alejandro; Goncalves, Pedro; Doisne, Jean-Marc; Horev, Liran; Charmeteau-de Muylder, Benedicte; Alvarez, Jesus A.; Arboleda, Diana M.; Perez-Zapata, Lizet; Vasquez-Echeverri, Estefania; Moncada-Velez, Marcela; Lopez, Juan A.; Caicedo, Yolanda; Palterer, Boaz; Patino, Pablo J.; Montoya, Carlos J.; Chaldebas, Matthieu; Zhang, Peng; Nguyen, Tina; Ma, Cindy S.; Jeljeli, Mohamed; Alzate, Juan F.; Cabarcas, Felipe; Khan, Taushif; Rinchai, Darawan; Pretet, Jean-Luc; Boisson, Bertrand; Marr, Nico; Ibrahim, Ruba; Molho-Pessach, Vered; Boisson-Dupuis, Stephanie; Kiritsi, Dimitra; Barata, Joao T.; Landegren, Nils; Neven, Benedicte; Abe, Laurent; Lisco, Andrea; Beziat, Vivien; Jouanguy, Emmanuelle; Bustamante, Jacinta; Di Santo, James P.; Tangye, Stuart G.; Notarangelo, Luigi D.; Cheynier, Remi; Natsuga, Ken; Arias, Andres A.; Franco, Jose Luis; Warnatz, Klaus; Casanova, Jean-Laurent; Puel, Anne Share Save
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A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm Zmajkovicova, Katarina; Pawar, Sumit; Sharapova, Svetlana O.; Geier, Christoph B.; Wiest, Ivana; Nguyen, Chi; Monticelli, Halenya; Maier-Munsa, Sabine; Chen, Kelly; Sleasman, John W.; Aleshkevich, Svetlana; Polyakova, Ekaterina; Sakovich, Inga; Warnatz, Klaus; Grimbacher, Bodo; Proietti, Michele; Sondheimer, Neal; Ujhazi, Boglarka; Gordon, Sumai; Ellison, Maryssa; Yilmaz, Melis; Walter, Jolan E.; Badarau, Adriana; Taveras, Arthur G.; Neff, Jadee L.; Bledsoe, Jacob R.; Tarrant, Teresa K. Share Save
Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells Staniek, Julian; Kalina, Tomas; Andrieux, Geoffroy; Boerries, Melanie; Janowska, Iga; Fuentes, Manuel; Diez, Paula; Bakardjieva, Marina; Stancikova, Jitka; Raabe, Jan; Neumann, Julika; Schwenk, Sabine; Arpesella, Leonardo; Stuchly, Jan; Benes, Vladimir; Garcia Valiente, Rodrigo; Fernandez Garcia, Jonatan; Carsetti, Rita; Piano Mortari, Eva; Catala, Albert; de la Calle, Oscar; Sogkas, Georgios; Neven, Benedicte; Rieux-Laucat, Frederic; Magerus, Aude; Neth, Olaf; Olbrich, Peter; Voll, Reinhard E.; Alsina, Laia; Allende, Luis M.; Gonzalez-Granado, Luis I.; Boehler, Chiara; Thiel, Jens; Venhoff, Nils; Lorenzetti, Raquel; Warnatz, Klaus; Unger, Susanne; Seidl, Maximilian; Mielenz, Dirk; Schneider, Pascal; Ehl, Stephan; Rensing-Ehl, Anne; Smulski, Cristian Roberto; Rizzi, Marta Share Save
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Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing Rensing-Ehl, Anne; Lorenz, Myriam Ricarda; Fueurohrer, Marita; Willenbacher, Wolfgang; Willenbacher, Ella; Sopper, Sieghart; Abinun, Mario; Maccari, Maria Elena; Koeuronig, Christoph; Haegele, Pauline; Fuchs, Sebastian; Castro, Carla; Kury, Patrick; Pelle, Olivier; Klemann, Christian; Heeg, Maximilian; Thalhammer, Julian; Wegehaupt, Oliver; Fischer, Marco; Goldacker, Sigune; Schulte, Bjoeurorn; Biskup, Saskia; Chatelain, Philippe; Schuster, Volker; Warnatz, Klaus; Grimbacher, Bodo; Meinhardt, Andrea; Holzinger, Dirk; Oommen, Prasad Thomas; Hinze, Tanja; Hebart, Holger; Seeger, Karlheinz; Lehmberg, Kai; Leahy, Timothy Ronan; Claviez, Alexander; Vieth, Simon; Schilling, Freimut H.; Fuchs, Ilka; Gross, Miriam; Rieux-Laucat, Frederic; Magerus, Aude; Speckmann, Carsten; Schwarz, Klaus; Ehl, Stephan Share Save
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK Keller, Baerbel; Kfir-Erenfeld, Shlomit; Matusewicz, Paul; Hartl, Frederike; Lev, Atar; Lee, Yu Nee; Simon, Amos J.; Stauber, Tali; Elpeleg, Orly; Somech, Raz; Stepensky, Polina; Minguet, Susana; Schraven, Burkhart; Warnatz, Klaus Share Save
Diagnostic testing for GLILD in Common Variable Immunodeficiency: A Systematic Review Bintalib, Heba M.; Van De Ven, Annick A. J. M.; Jacob, Joseph; Davidsen, Jesper R.; Fevanga, Borre; Hanitsch, Leif G.; Routes, John; Malphettes, Marion; Van Montfrans, Joris; Maglioned, Paul J.; Milito, Cinzia; Warnatz, Klaus; Hurst, John R. Share Save
Activated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity Maccari, Maria Elena; Wolkewitz, Martin; Schwab, Charlotte; Lorenzini, Tiziana; Leiding, Jennifer W.; Aladjdi, Nathalie; Abolhassani, Hassan; Abou-Chahla, Wadih; Aiuti, Alessandro; Azarnoush, Saba; Baris, Safa; Barlogis, Vincent; Barzaghi, Federica; Baumann, Ulrich; Bloomfield, Marketa; Bohynikova, Nadezda; Bodet, Damien; Boutboul, David; Bucciol, Giorgia; Buckland, MattheW S.; Burns, Siobhan O.; Cancrini, Caterina; Cath, Pascal; Cavazzana, Marina; Cheminant, Morgane; Chinello, Matteo; Ciznar, Peter; Coulter, Tanya I.; D'Aveni, Maud; Ekwall, Olov; Eric, Zelimir; Eren, Efrem; Fasth, Anders; Frange, Pierre; Fournier, Benjamin; Garcia-Prat, Marina; Gardembas, Martine; Geier, Christoph; Ghosh, Sujal; Goda, Vera; Hammarstrom, Lennar; Hauck, Fabian; Heeg, Maximilian; Heropolitanska-Pliszka, Edyta; Hilfanova, Anna; Jolles, Stephen; Karakoc-Aydiner, Elif; Kindle, Gerhard R.; Kiykim, Ayca; Klemann, Christian; Koletsi, Patra; Koltan, Sylwia; Kondratenko, Irina; Korholz, Julia; Kruger, Renate; Jeziorski, Eric; Levy, Romain; Le Guenno, Guillaume; Lefevre, Guillaume; Lougaris, Vassilios; Marzollo, Antonio; Mahlaoui, Nizar; Malphettes, Marion; Meinhardt, Andrea; Merlin, Etienne; Meyts, Isabelle; Milota, Tomas; Moreira, Fernando; Moshous, Despina; Mukhina, Anna; Neth, Olaf; Neubert, Jennifer; Neven, Benedicte; Nieters, Alexandra; Nove-Josserand, Raphaele; Oksenhendler, Eric; Ozen, Ahmet; Olbrich, Peter; Perlat, Antoinette; Pac, Malgorzata; Schmid, Jana Pachlopnik; Pacillo, Lucia; Parra-Martinez, Alba; Paschenko, Olga; Pellier, Isabelle; Sefer, Asena Pinar; Plebani, Alessandro; Plantaz, Dominique; Prader, Seraina; Raffray, Loic; Ritterbusch, Henrike; Riviere, Jacques G.; Rivalta, Beatrice; Rusch, Stephan; Sakovich, Inga; Savic, Sinisa; Scheible, Raphael; Schleinitz, Nicolas; Schuetz, Catharina; Schulz, Ansgar; Sediva, Anna; Semeraro, Michaela; Sharapova, Svetlana O.; Shcherbina, Anna; Slatter, Mary A.; Sogkas, Georgios; Soler-Palacin, Pere; Speckmann, Carsten; Stephan, Jean-Louis; Suarez, Felipe; Tommasini, Alberto; Truck, Johannes; Uhlmann, Annette; van Aerde, Koen J.; van Montfrans, Joris; von Bernuth, Horst; Warnatz, Klaus; Williams, Tony; Worth, Austen J. J.; Ip, Winnie; Picard, Capucine; Catherinot, Emilie; Nademi, Zohreh; Grimbacher, Bodo; Satter, Lisa R. Forbes; Kracker, Sven; Chandra, Anita; Condliffe, Alison M.; Ehl, Stephan Share Save
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