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Paradoxical combination of osteosclerosis and osteopenia in an adult woman with biallelic TNFRSF11A loss-of-function variants escaping nonsense-mediated decay Gajewski, Dario; Hennig, Anna Floriane; Gruen, Regina; Siggelkow, Heide; Vishnolia, Svenja; Bastian, Leonard; Taipaleenmaeki, Hanna; Schulz, Ansgar; Kornak, Uwe; Hesse, Eric Share Save
Impact of treosulfan exposure on clinical outcome after allogeneic stem cell transplantation in children: A substudy of 2 phase 2 trials Kalwak, Krzysztof; Vora, Ajay; Bader, Peter; Burkhardt, Birgit; Corbacioglu, Selim; Drabko, Katarzyna; Gozdzik, Jolanta; Greil, Johann; Gruhn, Bernd; Patrick, Katharine; Schulz, Ansgar; Sedlacek, Petr; Styczynski, Jan; Mielcarek-Siedziuk, Monika; Locatelli, Franco; Reinhardt, Dirk; Schlegel, Paul-Gerhardt; Baumgart, Joachim; Kehne, Jochen; Li, Xieran; Beier, Rita Share Save
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti Eigemann, Jessica; Janda, Ales; Schuetz, Catharina; Lee-Kirsch, Min Ae; Schulz, Ansgar; Hoenig, Manfred; Furlan, Ingrid; Jacobsen, Eva-Maria; Zinngrebe, Julia; Peters, Sarah; Drewes, Cosima; Siebert, Reiner; Rump, Eva-Maria; Fuehrer, Marita; Lorenz, Myriam; Pannicke, Ulrich; Koelsch, Uwe; Debatin, Klaus-Michael; von Bernuth, Horst; Schwarz, Klaus; Felgentreff, Kerstin Share Save
A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation Lui, Victor G.; Hoenig, Manfred; Cabrera-Martinez, Berenice; Baxter, Ryan M.; Garcia-Perez, Josselyn E.; Bailey, Olivia; Acharya, Atanu; Lundquist, Karl; Capera, Jesusa; Matusewicz, Paul; Hartl, Frederike A.; D'Abramo, Marco; Alba, Josephine; Jacobsen, Eva-Maria; Niewolik, Doris; Lorenz, Myriam; Pannicke, Ulrich; Schulz, Ansgar S.; Debatin, Klaus-Michael; Schamel, Wolfgang W.; Minguet, Susana; Gumbart, James C.; Dustin, Michael L.; Cambier, John C.; Schwarz, Klaus; Hsieh, Elena W. Y. 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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Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API) Speckmann, Carsten; Nennstiel, Uta; Hoenig, Manfred; Albert, Michael H.; Ghosh, Sujal; Schuetz, Catharina; Brockow, Inken; Hoerster, Friederike; Niehues, Tim; Ehl, Stephan; Wahn, Volker; Borte, Stephan; Lehmberg, Kai; Baumann, Ulrich; Beier, Rita; Krueger, Renate; Bakhtiar, Shahrzad; Kuehl, Joern-Sven; Klemann, Christian; Kontny, Udo; Holzer, Ursula; Meinhardt, Andrea; Morbach, Henner; Naumann-Bartsch, Nora; Rothoeft, Tobias; Kreins, Alexandra Y.; Davies, E. Graham; Schneider, Dominik T.; Bernuth, Horst V.; Klingebiel, Thomas; Hoffmann, Georg F.; Schulz, Ansgar; Hauck, Fabian Share Save
Automated production of specific T cells for treatment of refractory viral infections after allogeneic stem cell transplantation Heinz, Amadeus T.; Calkoen, Friso G. J.; Derbich, Alexander; Miltner, Lea; Seitz, Christian; Doering, Michaela; Braun, Christiane; Atar, Daniel; Schumm, Michael; Heubach, Florian; Arendt, Anne- Marie; Schulz, Ansgar; Schuster, Friedhelm R.; Meisel, Roland; Strahm, Brigitte; Finke, Juergen; Heineking, Beatrice; Stetter, Susanne; Silling, Gerda; Stachel, Daniel; Gruhn, Bernd; Debatin, Klaus-Michael; Foell, Juergen; Schulte, Johannes H.; Woessmann, Wilhelm; Mauz-Koerholz, Christine; Tischer, Johanna; Feuchtinger, Tobias; Handgretinger, Rupert; Lang, Peter Share Save
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A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency Fornes, Oriol; Jia, Alicia; Kuehn, Hye Sun; Min, Qing; Pannicke, Ulrich; Schleussner, Nikolai; Thouenon, Romane; Yu, Zhijia; Astbury, Maria de los Angeles; Biggs, Catherine M.; Galicchio, Miguel; Garcia-Campos, Jorge Alberto; Gismondi, Silvina; Villarreal, Guadalupe Gonzalez; Hildebrandt, Kyla J.; Honig, Manfred; Hou, Jia; Moshous, Despina; Pittaluga, Stefania; Qian, Xiaowen; Rozmus, Jacob; Schulz, Ansgar S.; Staines-Boone, Aide Tamara; Sun, Bijun; Sun, Jinqiao; Uwe, Schauer; Venegas-Montoya, Edna; Wang, Wenjie; Wang, Xiaochuan; Ying, Wenjing; Zhai, Xiaowen; Zhou, Qinhua; Akalin, Altuna; Andre, Isabelle; Barth, Thomas F. E.; Baumann, Bernd; Brustle, Anne; Burgio, Gaetan; Bustamante, Jacinta C.; Casanova, Jean-Laurent; Casarotto, Marco G.; Cavazzana, Marina; Chentout, Loic; Cockburn, Ian A.; Costanza, Mariantonia; Cui, Chaoqun; Daumke, Oliver; Del Bel, Kate L.; Eibel, Hermann; Feng, Xiaoqian; Franke, Vedran; Gebhardt, J. Christof M.; Goetz, Andrea; Grunwald, Stephan; Hoareau, Benedicte; Hughes, Timothy R.; Jacobsens, Eva-Maria; Janz, Martin; Jalma, Arttu; Lagresle-Peyrou, Chantal; Lai, Nannan; Li, Yaxuan; Lin, Susan; Lu, Henry Y.; Lugo-Reyes, Saul O.; Meng, Xin; Moeller, Pete; Moreno-Corona, Nidia; Niemela, Julie E.; Novakovsky, Gherman; Perez-Caraballo, Jareb J.; Picard, Capucine; Poggi, Lucie; Puig-Lombardi, Maria-Emilia; Randallr, Katrina L.; Reisser, Anja; Schmitt, Yohann; Seneviratne, Sandali; Sharma, Mehul; Stoddard, Jennifer; Sundararaj, Srinivasan; Sutton, Harry; Tran, Linh Q.; Wang, Ying; Wasserman, Wyeth W.; Wen, Zichao; Winkler, Wiebke; Xiong, Ermeng; Yang, Ally W. H.; Yu, Meiping; Zhang, Lumin; Zhang, Hai; Zhao, Qian; Zhen, Xin; Enders, Anselm; Kracker, Sven; Martinez-Barricarte, Ruben; Mathas, Stephan; Rosenzweig, Sergio D.; Schwarz, Klaus; Turvey, Stuart E.; Wang, Ji-Yang Share Save
Incidence of subsequent malignancies after total body irradiation-based allogeneic HSCT in children with ALL - long-term follow-up from the prospective ALL-SCT 2003 trial Eichinger, Anna; Poetschger, Ulrike; Glogova, Evgenia; Bader, Peter; Basu, Oliver; Beier, Rita; Burkhardt, Birgit; Classen, Carl-Friedrich; Claviez, Alexander; Corbacioglu, Selim; Deubzer, Hedwig E.; Greil, Johann; Gruhn, Bernd; Gungor, Tayfun; Kafa, Kinan; Kuhl, Jorn-Sven; Lang, Peter; Lange, Bjoern Soenke; Meisel, Roland; Muller, Ingo; Sauer, Martin G.; Schlegel, Paul-Gerhardt; Schulz, Ansgar; Stachel, Daniel; Strahm, Brigitte; Wawer, Angela; Peters, Christina; Albert, Michael H. Share Save
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency Giardino, Stefano; Volpi, Stefano; Lucioni, Federica; Caorsi, Roberta; Schneiderman, Jennifer; Lang, Abigail; Khojah, Amer; Kuijpers, Taco; Papadatou, Ionanna; Paisiou, Anna; Alonso, Laura; Schulz, Ansgar; Marcus, Nufar; Gattorno, Marco; Faraci, Maura Share Save
Hematopoietic cell transplantation in severe combined immunodeficiency: The SCETIDE 2006-2014 European cohort Lankester, Arjan C.; Neven, Benedicte; Mahlaoui, Nizar; von Asmuth, Erik G. J.; Courteille, Virginie; Alligon, Mikael; Albert, Michael H.; Serra, Isabelle Badell; Bader, Peter; Balashov, Dmitry; Beier, Rita; Bertrand, Yves; Blanche, Stephane; Bordon, Victoria; Bredius, Robbert G.; Cant, Andrew; Cavazzana, Marina; Diaz-de-Heredia, Cristina; Dogu, Figen; Ehlert, Karoline; Entz-Werle, Natacha; Fasth, Anders; Ferrua, Francesca; Ferster, Alina; Formankova, Renata; Friedrich, Wilhelm; Gonzalez-Vicent, Marta; Gozdzik, Jolanta; Gungor, Tayfun; Hoenig, Manfred; Ikinciogullari, Aydan; Kalwak, Krzysztof; Kansoy, Savas; Kupesiz, Alphan; Lanfranchi, Arnalda; Lindemans, Caroline A.; Meisel, Roland; Michel, Gerard; Miranda, Nuno A. A.; Moraleda, Jose; Moshous, Despina; Pichler, Herbert; Rao, Kanchan; Sedlacek, Petr; Slatter, Mary; Soncini, Elena; Speckmann, Carsten; Sundin, Mikael; Toren, Amos; Vettenranta, Kim; Worth, Austen; Yesilipek, Mehmet A.; Zecca, Marco; Porta, Fulvio; Schulz, Ansgar; Veys, Paul; Fischer, Alain; Gennery, Andrew R. Share Save
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients (vol 41, pg 1633, 2021) Hashem, Hasan; Bucciol, Giorgia; Ozen, Seza; Unal, Sule; Bozkaya, Ikbal Ok; Akarsu, Nurten; Taskinen, Mervi; Koskenvuo, Minna; Saarela, Janna; Dimitrova, Dimana; Hickstein, Dennis D.; Hsu, Amy P.; Holland, Steven M.; Krance, Robert; Sasa, Ghadir; Kumar, Ashish R.; Mueller, Ingo; de Sousa, Monica Abreu; Delafontaine, Selket; Moens, Leen; Babor, Florian; Barzaghi, Federica; Cicalese, Maria Pia; Bredius, Robbert; van Montfrans, Joris; Baretta, Valentina; Cesaro, Simone; Stepensky, Polina; Benedicte, Neven; Moshous, Despina; Le Guenno, Guillaume; Boutboul, David; Dalal, Jignesh; Brooks, Joel P.; Dokmeci, Elif; Dara, Jasmeen; Lucas, Carrie L.; Hambleton, Sophie; Wilson, Keith; Jolles, Stephen; Koc, Yener; Gungor, Tayfun; Schnider, Caroline; Candotti, Fabio; Steinmann, Sandra; Schulz, Ansgar; Chambers, Chip; Hershfield, Michael; Ombrello, Amanda; Kanakry, Jennifer A.; Meyts, Isabelle Share Save
Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS Zinngrebe, Julia; Moepps, Barbara; Monecke, Thomas; Gierschik, Peter; Schlichtig, Ferdinand; Barth, Thomas F. E.; Strauss, Gudrun; Boldrin, Elena; Posovszky, Carsten; Schulz, Ansgar; Beringer, Ortraud; Rieser, Eva; Jacobsen, Eva-Maria; Lorenz, Myriam Ricarda; Schwarz, Klaus; Pannicke, Ulrich; Walczak, Henning; Niessing, Dierk; Schuetz, Catharina; Fischer-Posovszky, Pamela; Debatin, Klaus-Michael Share Save
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