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LTβR deficiency causes lymph node aplasia and impaired B cell differentiation Ransmayr, Bernhard; Bal, Sevgi Koestel; Thian, Marini; Svaton, Michael; van de Wetering, Cheryl; Hafemeister, Christoph; Segarra-Roca, Anna; Block, Jana; Frohne, Alexandra; Krolo, Ana; Altunbas, Melek Yorgun; Bilgic-Eltan, Sevgi; Kiykim, Ayca; Aydiner, Omer; Kesim, Selin; Inanir, Sabahat; Karakoc-Aydiner, Elif; Ozen, Ahmet; Aba, Uemran; Comak, Aylin; Tugcu, Goekcen Dilsa; Pazdzior, Robert; Huber, Bettina; Farlik, Matthias; Kubicek, Stefan; von Bernuth, Horst; Simonitsch-Klupp, Ingrid; Rizzi, Marta; Halbritter, Florian; Tumanov, Alexei V.; Kraakman, Michael J.; Metin, Ayse; Castanon, Irinka; Erman, Baran; Baris, Safa; Boztug, Kaan Share Save
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cells Rao, Geetha; Mack, Corinne D.; Nguyen, Tina; Wong, Natalie; Payne, Kathryn; Worley, Lisa; Gray, Paul E.; Wong, Melanie; Hsu, Peter; Stormon, Michael O.; Preece, Kahn; Suan, Daniel; O'Sullivan, Michael; Blincoe, Annaliesse K.; Sinclair, Jan; Okada, Satoshi; Hambleton, Sophie; Arkwright, Peter D.; Boztug, Kaan; Stepensky, Polina; Cooper, Megan A.; Bezrodnik, Liliana; Nadeau, Kari C.; Abraham, Roshini S.; Seppanen, Mikko R. J.; Bustamante, Jacinta; Forbes, Lisa R.; Leiding, Jennifer W.; Meyts, Isabelle; Jouanguy, Emmanuelle; Boisson-Dupuis, Stephanie; Uzel, Gulbu; Tangye, Stuart G.; Ma, Cindy S. Share Save
Inherited human RelB deficiency impairs innate and adaptive immunity to infection Le Voyer, Tom; Renkilaraj, Majistor Raj Luxman Maglorius; Moriya, Kunihiko; Lorenzo, Malena Perez; Nguyen, Tina; Gao, Liwei; Rubin, Tamar; Cederholm, Axel; Ogishi, Masato; Franco, Carlos A. Arango-; Beziat, Vivien; Levy, Romain; Migaud, Melanie; Rapaport, Franck; Itan, Yuval; Deenick, Elissa K.; Cortese, Irene; Lisco, Andrea; Boztug, Kaan; Abel, Laurent; Boisson-Dupuis, Stephanie; Boisson, Bertrand; Frosk, Patrick; Ma, Cindy S.; Landegren, Nils; Celmeli, Fatih; Casanova, Jean- Laurent; Tangye, Stuart G.; Puel, Anne Share Save
Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion Kirsaclioglu, Ceyda Tuna; Frohne, Alexandra; Kuloglu, Zarife; Kristofersdottir, Isidora; Demir, Engin; Altuntas, Cansu; Haskologlu, Zehra Sule; Cobanoglu, Fatma Nazan; Kendirli, Tanil; Ozdemir, Halil; Ozcakar, Zeynep Birsin; Savas, Berna; Dogu, Figen; Ikinciogullari, Aydan; Boztug, Kaan; Kansu, Aydan Share Save
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion Karakus, Ibrahim Serhat; Catak, Mehmet Cihangir; Frohne, Alexandra; Catak, Feyza Bayram; Altunbas, Melek Yorgun; Babayeva, Royala; Bal, Sevgi Kostel; Eltan, Sevgi Bilgic; Gungoren, Ezgi Yalcin; Esen, Fehim; Zemheri, Itir Ebru; Karakoc-Aydiner, Elif; Ozen, Ahmet; Caki-Kilic, Suar; Kraakman, Michael J.; Boztug, Kaan; Baris, Safa Share Save
Coordinated ARP2/3 and glycolytic activities regulate the morphological and functional fitness of human CD8+T cells Kamnev, Anton; Mehta, Tanvi; Wielscher, Matthias; Chaves, Beatriz; Lacouture, Claire; Mautner, Anna-Katharina; Shaw, Lisa E.; Caldera, Michael; Menche, Joerg; Weninger, Wolfgang P.; Farlik, Matthias; Boztug, Kaan; Dupre, Loic Share Save
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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome Werren, Elizabeth A.; Laforce, Geneva R.; Srivastava, Anshika; Perillo, Delia R.; Li, Shaokun; Johnson, Katherine; Baris, Safa; Berger, Brandon; Regan, Samantha L.; Pfennig, Christian D.; de Munnik, Sonja; Pfundt, Rolph; Hebbar, Malavika; Jimenez-Heredia, Raul; Karakoc-Aydiner, Elif; Ozen, Ahmet; Dmytrus, Jasmin; Krolo, Ana; Corning, Ken; Prijoles, E. J.; Louie, Raymond J.; Lebel, Robert Roger; Le, Thuy-Linh; Amiel, Jeanne; Gordon, Christopher T.; Boztug, Kaan; Girisha, Katta M.; Shukla, Anju; Bielas, Stephanie L.; Schaffer, Ashleigh E. Share Save
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre Karaatmaca, Betul; Cagdas, Deniz; Esenboga, Saliha; Erman, Baran; Tan, Cagman; Ozgur, Tuba Turul; Boztug, Kaan; van der Burg, Mirjam; Sanal, Ozden; Tezcan, Ilhan Share Save
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes Kager, Leo; Jimenez-Heredia, Raul; Zeitlhofer, Petra; Novak, Wolfgang; Eder, Sebastian K.; Segarra-Roca, Anna; Frohne, Alexandra; Nebral, Karin; Haimel, Matthias; Geyeregger, Rene; Roetzer-Londgin, Katharina; Haas, Oskar A.; Boztug, Kaan Share Save
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome Riestra, Maria Rodrigo; Pillay, Bethany A.; Willemsen, Mathijs; Kienapfel, Verena; Ehlers, Lisa; Delafontaine, Selket; Pinton, Antoine; Wouters, Marjon; Hombrouck, Anneleen; Sauer, Kate; Bossuyt, Xavier; Voet, Arnout; Soenen, Stefaan J.; Conde, Cecilia Dominguez; Bucciol, Giorgia; Boztug, Kaan; Humblet-Baron, Stephanie; Touzart, Aurore; Rieux-Laucat, Frederic; Notarangelo, Luigi D.; Moens, Leen; Meyts, Isabelle Share Save
The Human Phenotype Ontology in 2024: phenotypes around the world Gargano, Michael A.; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B.; Anagnostopoulos, Anna, V; Anderton, Joel; Avillach, Paul; Bagley, Anita M.; Bakstein, Eduard; Balhoff, James P.; Baynam, Gareth; Bello, Susan M.; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F.; Botas, Pablo; Boztug, Kaan; Cady, Jolana; Callahan, Tiffany J.; Cameron, Rhiannon; Carbon, Seth J.; Castellanos, Francisco; Caufield, J. Harry; Chan, Lauren E.; Chute, Christopher G.; Cruz-Rojo, Jaime; Dahan-Oliel, Noemi; Davids, Jon R.; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B. A.; de Vries, Esther; DePaulo, J. Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J. M.; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen, V; Freudenberg-Hua, Yun; Fullerton, Janice M.; Gabriel, Davera L.; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S.; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanusova, Katerina; He, Yongqun (Oliver); Hegde, Harshad; Helbig, Ingo; Holasova, Katerina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O. B.; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A.; Kraus, Megan L.; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S.; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L.; Martinez-Glez, Victor; McHenry, Toby H.; McInnis, Melvin G.; McMurry, Julie A.; Mihulova, Michaela; Millett, Caitlin E.; Mitchell, Philip B.; Moslerova, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A.; Cajbikova, Nikola Novak; Nurnberger, John I., Jr.; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K.; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M.; Roy, Suzy; Sanders, Stephan J.; Schuetz, Catharina; Schulte, Eva C.; Schulze, Thomas G.; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N.; Simon, Eric S.; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L.; Smolinsky, Jake T.; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A.; Tesner, Pavel; Thomas, Rhys H.; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E.; Vasilevsky, Nicole A.; Vlckova, Marketa; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S.; Wiafe, Addo A.; Wiafe, Samuel A.; Wiggins, Lisa D.; Williams, Andrew E.; Wu, Chen; Wyrwoll, Margot J.; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N.; Yocum, Anastasia K.; Young, Allan H.; Yueksel, Zafer; Zandi, Peter P.; Zankl, Andreas; Zarante, Ignacio; Zvolsky, Miroslav; Toro, Sabrina; Carmody, Leigh C.; Harris, Nomi L.; Munoz-Torres, Monica C.; Danis, Daniel; Mungall, Christopher J.; Koehler, Sebastian; Haendel, Melissa A.; Robinson, Peter N. Share Save
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases Berner, Jakob; van de Wetering, Cheryl; Heredia, Raul Jimenez; Rashkova, Christina; Ferdinandusse, Sacha; Koster, Janet; Weiss, Johannes G.; Frohne, Alexandra; Giuliani, Sarah; Waterham, Hans R.; Castanon, Irinka; Brunner, Juergen; Boztug, Kaan Share Save
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