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Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome Shapiro, Adam J.; Wu, Eveline Y.; Morris-Rosendahl, Deborah J.; Olivier, Kenneth N.; Dell, Sharon D.; Sagel, Scott D.; Dutmer, Cullen M.; Mosquera, Ricardo A.; Rose, Markus; O'Connor, Michael G.; Ma, Chi A.; Uzel, Gulbu; Vece, Timothy J.; Zariwala, Maimoona A.; Knowles, Michael R.; Leigh, Margaret W.; Davis, Stephanie D.; Ferkol, Thomas W. Share Save
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Development of hepatic fibrosis in common variable immunodeficiency-related porto-sinusoidal vascular disorder Hercun, Julian; Asif, Bilal; Vittal, Anusha; Ahmed, Abdel; Gopalakrishna Pillai, Harish Kumar; Bergerson, Jenna R. E.; Holland, Steven; Uzel, Gulbu; Strober, Warren; Fuss, Ivan J.; Koh, Christopher; Kleiner, David E.; Heller, Theo Share Save
Long-term treatment with selective PI3Kδ inhibitor leniolisib in adults with activated PI3Kδ syndrome Rao, V. Koneti; Kulm, Elaine; Grossman, Jennifer; Buchbinder, David; Chong, Hey; Bradt, Jason; Webster, Sharon; Sediva, Anna; Dalm, Virgil A.; Uzel, Gulbu Share Save
BTK drives neutrophil activation for sterilizing antifungal immunity Desai, Jigar, V; Zarakas, Marissa A.; Wishart, Andrew L.; Roschewski, Mark; Aufiero, Mariano A.; Donko, Agnes; Wigerblad, Gustaf; Shlezinger, Neta; Plate, Markus; James, Matthew R.; Lim, Jean K.; Uzel, Gulbu; Bergerson, Jenna R. E.; Fuss, Ivan; Cramer, Robert A.; Franco, Luis M.; Clark, Emily S.; Khan, Wasif N.; Yamanaka, Daisuke; Chamilos, Georgios; El-Benna, Jamel; Kaplan, Mariana J.; Staudt, Louis M.; Leto, Thomas L.; Holland, Steven M.; Wilson, Wyndham H.; Hohl, Tobias M.; Lionakis, Michail S. Share Save
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway (vol 25, pg 282, 2024) Park, Ann Y.; Leney-Greene, Michael; Lynberg, Matthew; Gabrielski, Justin Q.; Xu, Xijin; Schwarz, Benjamin; Zheng, Lixin; Balasubramaniyam, Arasu; Ham, Hyoungjun; Chao, Brittany; Zhang, Yu; Matthews, Helen F.; Cui, Jing; Yao, Yikun; Kubo, Satoshi; Chanchu, Jean Michel; Morawski, Aaron R.; Cook, Sarah A.; Jiang, Ping; Ravell, Juan C.; Cheng, Yan H.; George, Alex; Faruqi, Aiman; Pagalilauan, Alison M.; Bergerson, Jenna R. E.; Ganesan, Sundar; Chauvin, Samuel D.; Aluri, Jahnavi; Edwards-Hicks, Joy; Bohrnsen, Eric; Tippett, Caroline; Omar, Habib; Xu, Leilei; Butcher, Geoffrey W.; Pascall, John; Karakoc-Aydiner, Elif; Kiykim, Ayca; Maecker, Holden; Tezcan, Ilhan; Esenboga, Saliha; Heredia, Raul Jimenez; Akata, Deniz; Tekin, Saban; Kara, Altan; Kuloglu, Zarife; Unal, Emel; Kendirli, Tanil; Dogu, Figen; Karabiber, Esra; Atkinson, T. Prescott; Cochet, Claude; Filhol, Odile; Bosio, Catherine M.; Davis, Mark M.; Lifton, Richard P.; Pearce, Erika L.; Daumke, Oliver; Aytekin, Caner; Sahin, Gulseren Evirgen; Aksu, Aysel Unlusoy; Uzel, Gulbu; Rao, V. Koneti; Sari, Sinan; Dalgic, Buket; Boztug, Kaan; Cagdas, Deniz; Haskologlu, Sule; Ikinciogullari, Aydan; Schwefel, David; Vilarinho, Silvia; Baris, Safa; Ozen, Ahmet; Su, Helen C.; Lenardo, Michael J. Share Save
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway Park, Ann Y.; Leney-Greene, Michael; Lynberg, Matthew; Gabrielski, Justin Q.; Xu, Xijin; Schwarz, Benjamin; Zheng, Lixin; Balasubramaniyam, Arasu; Ham, Hyoungjun; Chao, Brittany; Zhang, Yu; Matthews, Helen F.; Cui, Jing; Yao, Yikun; Kubo, Satoshi; Chanchu, Jean Michel; Morawski, Aaron R.; Cook, Sarah A.; Jiang, Ping; Ravell, Juan C.; Cheng, Yan H.; George, Alex; Faruqi, Aiman; Pagalilauan, Alison M.; Bergerson, Jenna R. E.; Ganesan, Sundar; Chauvin, Samuel D.; Aluri, Jahnavi; Edwards-Hicks, Joy; Bohrnsen, Eric; Tippett, Caroline; Omar, Habib; Xu, Leilei; Butcher, Geoffrey W.; Pascall, John; Karakoc-Aydiner, Elif; Kiykim, Ayca; Maecker, Holden; Tezcan, Ilhan; Esenboga, Saliha; Heredia, Raul Jimenez; Akata, Deniz; Tekin, Saban; Kara, Altan; Kuloglu, Zarife; Unal, Emel; Kendirli, Tanil; Dogu, Figen; Karabiber, Esra; Atkinson, T. Prescott; Cochet, Claude; Filhol, Odile; Bosio, Catherine M.; Davis, Mark M.; Lifton, Richard P.; Pearce, Erika L.; Daumke, Oliver; Aytekin, Caner; Sahin, Guelseren Evirgen; Aksu, Aysel uenluesoy; Uzel, Gulbu; Koneti Rao, V.; Sari, Sinan; Boztug, Kaan; Cagdas, Deniz; Haskologlu, Sule; Ikinciogullari, Aydan; Schwefel, David; Vilarinho, Silvia; Baris, Safa; Ozen, Ahmet; Su, Helen C.; Lenardo, Michael J. Share Save
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Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies Zendt, Mackenzie; Bustos Carrillo, Fausto A.; Kelly, Sophie; Saturday, Taylor; Degrange, Maureen; Ginigeme, Anita; Wu, Lurline; Callier, Viviane; Ortega-Villa, Ana; Faust, Mondreakest; Chang-Rabley, Emma; Bugal, Kara; Kenney, Heather; Khil, Pavel; Youn, Jung-Ho; Osei, Gloria; Regmi, Pravesh; Anderson, Victoria; Bosticardo, Marita; Daub, Janine; Dimaggio, Thomas; Kreuzburg, Samantha; Pala, Francesca; Pfister, Justina; Treat, Jennifer; Ulrick, Jean; Karkanitsa, Maria; Kalish, Heather; Kuhns, Douglas B.; Priel, Debra L.; Fink, Danielle L.; Tsang, John S.; Sparks, Rachel; Uzel, Gulbu; Waldman, Meryl A.; Zerbe, Christa S.; Delmonte, Ottavia M.; Bergerson, Jenna R. E.; Das, Sanchita; Freeman, Alexandra F.; Lionakis, Michail S.; Sadtler, Kaitlyn; van Doremalen, Neeltje; Munster, Vincent; Notarangelo, Luigi D.; Holland, Steven M.; Ricotta, Emily E. Share Save
Management and outcome of COVID-19 in CTLA-4 insufficiency Ochoa, Sebastian; Abers, Michael S.; Rosen, Lindsey B.; Rump, Amy; Howe, Katherine; Lieberman, Jay A.; Wright, Benjamin L.; Suez, Daniel; Krausz, Mate; Grimbacher, Bodo; Lionakis, Michail S.; Uzel, Gulbu Share Save
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2 Nguyen, Tina; Lau, Anthony; Bier, Julia; Cooke, Kristen C.; Lenthall, Helen; Ruiz-Diaz, Stephanie; Avery, Danielle T.; Brigden, Henry; Zahra, David; Sewell, William A.; Droney, Luke; Okada, Satoshi; Asano, Takaki; Abolhassani, Hassan; Chavoshzadeh, Zahra; Abraham, Roshini S.; Rajapakse, Nipunie; Klee, Eric W.; Church, Joseph A.; Williams, Andrew; Wong, Melanie; Burkhart, Christoph; Uzel, Gulbu; Croucher, David R.; James, David E.; Ma, Cindy S.; Brink, Robert; Tangye, Stuart G.; Deenick, Elissa K. Share Save
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+T cell dysregulation and accumulation Masle-Farquhar, Etienne; Jackson, Katherine J. L.; Peters, Timothy J.; Al-Eryani, Ghamdan; Singh, Mandeep; Payne, Kathryn J.; Rao, Geetha; Avery, Danielle T.; Apps, Gabrielle; Kingham, Jennifer; Jara, Christopher J.; Skvortsova, Ksenia; Swarbrick, Alexander; Ma, Cindy S.; Suan, Daniel; Uzel, Gulbu; Chua, Ignatius; Leiding, Jennifer W.; Heiskanen, Kaarina; Preece, Kahn; Kainulainen, Leena; O'Sullivan, Michael; Cooper, Megan A.; Seppaeuronen, Mikko R. J.; Mustjoki, Satu; Brothers, Shannon; Vogel, Tiphanie P.; Brink, Robert; Tangye, Stuart G.; Reed, Joanne H.; Goodnow, Christopher C. Share Save
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations Similuk, Morgan N.; Yan, Jia; Ghosh, Rajarshi; Oler, Andrew J.; Franco, Luis M.; Setzer, Michael R.; Kamen, Michael; Jodarski, Colleen; DiMaggio, Thomas; Davis, Joie; Gore, Rachel; Jamal, Leila; Borges, Adrienne; Gentile, Nicole; Niemela, Julie; Lowe, Chenery; Jevtich, Kathleen; Yu, Yunting; Hullfish, Haley; Hsu, Amy P.; Hong, Celine; Littel, Patricia; Seifert, Bryce A.; Milner, Joshua; Johnston, Jennifer J.; Cheng, Xi; Li, Zhiwen; Veltri, Daniel; Huang, Ke; Kaladi, Krishnaveni; Barnett, Jason; Zhang, Lingwen; Vlasenko, Nikita; Fan, Yongjie; Karlins, Eric; Ganakammal, Satishkumar Ranganathan; Gilmore, Robert; Tran, Emily; Yun, Alvin; Mackey, Joseph; Yazhuk, Svetlana; Lack, Justin; Kuram, Vasudev; Cao, Wenjia; Huse, Susan; Frank, Karen; Fahle, Gary; Rosenzweig, Sergio; Su, Yan; Hwang, SuJin; Bi, Weimin; Bennett, John; Myles, Ian A.; De Ravin, Suk See; Fuss, Ivan; Strober, Warren; Bielekova, Bibiana; de Jesus, Adriana Almeida; Goldbach-Mansky, Raphaela; Williamson, Peter; Kumar, Kelly; Dempsy, Caeden; Frischmeyer-Guerrerio, Pamela; Fisch, Robin; Bolan, Hyejeong; Metcalfe, Dean D.; Komarow, Hirsh; Carter, Melody; Druey, Kirk M.; Sereti, Irini; Dropulic, Lesia; Klion, Amy D.; Khoury, Paneez; O' Connell, Elise M.; Holland-Thomas, Nicole C.; Brown, Thomas; McDermott, David H.; Murphy, Philip M.; Bundy, Vanessa; Keller, Michael D.; Peng, Christine; Kim, Helen; Norman, Stephanie; Delmonte, Ottavia M.; Kang, Elizabeth; Su, Helen C.; Malech, Harry; Freeman, Alexandra; Zerbe, Christa; Uzel, Gulbu; Bergerson, Jenna R. E.; Rao, V. Koneti; Olivier, Kenneth N.; Lyons, Jonathan J.; Lisco, Andrea; Cohen, Jeffrey, I; Lionakis, Michail S.; Biesecker, Leslie G.; Xirasagar, Sandhya; Notarangelo, Luigi D.; Holland, Steven M.; Walkiewicz, Magdalena A. Share Save
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Human T-bet governs the generation of a distinct subset of CD11chighCD21low B cells Yang, Rui; Avery, Danielle T.; Jackson, Katherine J. L.; Ogishi, Masato; Benhsaien, Ibtihal; Du, Likun; Ye, Xiaofei; Han, Jing; Rosain, Jeremie; Peel, Jessica N.; Alyanakian, Marie-Alexandra; Neven, Benedicte; Winter, Sarah; Puel, Anne; Boisson, Bertrand; Payne, Kathryn J.; Wong, Melanie; Russell, Amanda J.; Mizoguchi, Yoko; Okada, Satoshi; Uzel, Gulbu; Goodnow, Christopher C.; Latour, Sylvain; El Bakkouri, Jalila; Bousfiha, Aziz; Preece, Kahn; Gray, Paul E.; Keller, Baerbel; Warnatz, Klaus; Boisson-Dupuis, Stephanie; Abel, Laurent; Pan-Hammarstrom, Qiang; Bustamante, Jacinta; Ma, Cindy S.; Casanova, Jean-Laurent; Tangye, Stuart G. Share Save
Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in ATG9A Hu, Guowu; Hauk, Pia J.; Zhang, Nannan; Elsegeiny, Waleed; Guardia, Carlos M.; Kullas, Amy; Crosby, Kevin; Deterding, Robin R.; Schedel, Michaela; Reynolds, Paul; Abbott, Jordan K.; Knight, Vijaya; Pittaluga, Stefania; Raffeld, Mark; Rosenzweig, Sergio D.; Bonifacino, Juan S.; Uzel, Gulbu; Williamson, Peter R.; Gelfand, Erwin W. Share Save
Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis, and rescue by IL-21 Hwang, SuJin; Tatsi, Christina; Kuehn, Hye Sun; Niemela, Julie E.; Stoddard, Jennifer; Su, Yan; Lodish, Maya; Uzel, Gulbu; Spolski, Rosanne; Leonard, Warren J.; Holland, Steven M.; Fleisher, Thomas A.; Stratakis, Constantine A.; Rosenzweig, Sergio D. Share Save
Nodular regenerative hyperplasia in X-linked agammaglobulinemia: An underestimated and severe complication Nunes-Santos, Cristiane J.; Koh, Christopher; Rai, Anjali; Sacco, Keith; Marciano, Beatriz E.; Kleiner, David E.; Marko, Jamie; Bergerson, Jenna R. E.; Stack, Michael; Rivera, Maria M.; Constantine, Gregory; Strober, Warren; Uzel, Gulbu; Fuss, Ivan J.; Notarangelo, Luigi D.; Holland, Steven M.; Rosenzweig, Sergio D.; Heller, Theo Share Save
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome Dimitrova, Dimana; Nademi, Zohreh; Maccari, Maria Elena; Ehl, Stephan; Uzel, Gulbu; Tomoda, Takahiro; Okano, Tsubasa; Imai, Kohsuke; Carpenter, Benjamin; Ip, Winnie; Rao, Kanchan; Worth, Austen J. J.; Laberko, Alexandra; Mukhina, Anna; Neven, Benedicte; Moshous, Despina; Speckmann, Carsten; Warnatz, Klaus; Wehr, Claudia; Abolhassani, Hassan; Aghamohammadi, Asghar; Bleesing, Jacob J.; Dara, Jasmeen; Dvorak, Christopher C.; Ghosh, Sujal; Kang, Hyoung Jin; Markelj, Gasper; Modi, Arunkumar; Bayer, Diana K.; Notarangelo, Luigi D.; Schulz, Ansgar; Garcia-Prat, Marina; Soler-Palacin, Pere; Karakukcu, Musa; Yilmaz, Ebru; Gambineri, Eleonora; Menconi, Mariacristina; Masmas, Tania N.; Holm, Mette; Bonfim, Carmem; Prando, Carolina; Hughes, Stephen; Jolles, Stephen; Morris, Emma C.; Kapoor, Neena; Koltan, Sylwia; Paneesha, Shankara; Steward, Colin; Wynn, Robert; Duffner, Ulrich; Gennery, Andrew R.; Lankester, Arjan C.; Slatter, Mary; Kanakry, Jennifer A. Share Save
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