Not logged in IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes Wang, Chen; Marciano, Beatriz E.; Harris, Annalie J.; Johnston, Alicia M.; Apaydin Arikan, Evsen; Bayer, Diana K.; Solomon, Benjamin D.; Price, Nathan B.; Platt, Craig D.; Modi, Arunkumar J.; Shaker, Marcus S.; Seroogy, Christine M.; Johnson, Daniel; Kleiner, David E.; Chirombo Kluczynski, Lavenda; Anderson, Victoria L.; Daub, Janine R.; Berghout, Joanne; Oler, Andrew J.; Walkiewicz, Magdalena A.; Similuk, Morgan; Lewis, David B.; Galgiani, John N.; Freeman, Alexandra F.; Rosen, Lindsey B.; Hsu, Amy P.; Zerbe, Christa S.; Holland, Steven M. Share Save
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Interferon-γ Therapy in Patients With Refractory Disseminated Coccidioidomycosis Wang, Chen; LaBere, Brenna A.; Chinga, Michell M. Lozano; Harris, Annalie J.; Rosen, Lindsey B.; Rivera, Amanda Elias; Le Run, Eva; Sacco, Keith A.; Ballan, Wassim; Woodward, James, V; Ostdiek, Scott A.; Smith, Matthew W.; Anderson, Victoria L.; Daub, Janine R.; Palmer, Cindy L.; Kluczynski, Lavenda Chirombo; Oler, Andrew J.; Walkiewicz, Magdalena A.; Ghosh, Rajarshi; Similuk, Morgan; Donovan, Fariba M.; Witt, John; Barros, Nicolas; Wheat, L. Joseph; Galgiani, John N.; Freeman, Alexandra F.; Hsu, Amy P.; Zerbe, Christa S.; Holland, Steven M. Share Save
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A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion Ochoa, Sebastian; Hsu, Amy P.; Oler, Andrew J.; Kumar, Dhaneshwar; Chauss, Daniel; van Hamburg, Jan Piet; van Laar, Gustaaf G.; Oikonomou, Vasileios; Ganesan, Sundar; Ferre, Elise M. N.; Schmitt, Monica M.; Dimaggio, Tom; Barber, Princess; Constantine, Gregory M.; Rosen, Lindsey B.; Auwaerter, Paul G.; Gandhi, Bhumika; Miller, Jennifer L.; Eisenberg, Rachel; Rubinstein, Arye; Schussler, Edith; Balliu, Erjola; Shashi, Vandana; Neth, Olaf; Olbrich, Peter; Le, Kim My; Mamia, Nanni; Laakso, Saila; Nevalainen, Pasi I.; Groenholm, Juha; Seppaenen, Mikko R. J.; Boon, Louis; Uzel, Gulbu; Franco, Luis M.; Heller, Theo; Winer, Karen K.; Ghosh, Rajarshi; Seifert, Bryce A.; Walkiewicz, Magdalena; Notarangelo, Luigi D.; Zhou, Qing; Askentijevich, Ivona; Gahl, William; Dalgard, Cliffton L.; Perera, Lalith; Afzali, Behdad; Tas, Sander W.; Holland, Steven M.; Lionakis, Michail S. Share Save
Topical steroid withdrawal is a targetable overproduction of nicotinic acid from mitochondrial complex I overexpression Shobnam, Nadia; Ratley, Grace; Saksena, Sarini; Yadav, Manoj; Chaudhary, Prem Prashant; Sun, Ashleigh A.; Howe, Katherine N.; Gadkari, Manasi; Franco, Luis M.; Ganesan, Sundar; Mccann, Katelyn J.; Hsu, Amy P.; Kanakabandi, Kishore; Ricklefs, Stacy; Lack, Justin; Yu, Weiming; Similuk, Morgan; Walkiewicz, Magdalena A.; Gardner, Donna D.; Barta, Kelly; Tullos, Kathryn; Myles, Ian A. Share Save
Evaluating Cognitive Impairment in a Large Health Care System: The Cognition in Primary Care Program Gaster, Barak; Suchsland, Monica Zigman; Fitzpatrick, Annette L.; Liao, Joshua M.; Belza, Basia; Hsu, Amy P.; McKiddy, Sarah; Park, Christina; Olivari, Benjamin S.; Singh, Angad P.; Raetz, Jaqueline Share Save
Anti-Interleukin-23 Autoantibodies in Adult-Onset Immunodeficiency Cheng, Aristine; Kashyap, Anuj; Salvator, Helene; Rosen, Lindsey B.; Colby, Devon; Ardeshir-Larijani, Fatemeh; Loehrer, Patrick J.; Ding, Li; Reyes, Saul O. Lugo; Riminton, Sean; Ballman, Madison; Rocco, Joseph M.; Marciano, Beatriz E.; Freeman, Alexandra F.; Browne, Sarah K.; Hsu, Amy P.; Zelazny, Adrian; Rajan, Arun; Sereti, Irini; Zerbe, Christa S.; Lionakis, Michail S.; Holland, Steven M. Share Save
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41 Homan, Claire C.; Drazer, Michael W.; Yu, Kai; Lawrence, David M.; Feng, Jinghua; Arriola-Martinez, Luis; Pozsgai, Matthew J.; Mcneely, Kelsey E.; Ha, Thuong; Venugopal, Parvathy; Arts, Peer; King-Smith, Sarah L.; Cheah, Jesse; Armstrong, Mark; Wang, Paul; Bodor, Csaba; Cantor, Alan B.; Cazzola, Mario; Degelman, Erin; Dinardo, Courtney D.; Duployez, Nicolas; Favier, Remi; Froehling, Stefan; Rio-Machin, Ana; Klco, Jeffery M.; Kraemer, Alwin; Kurokawa, Mineo; Lee, Joanne; Malcovati, Luca; Morgan, Neil, V; Natsoulis, Georges; Owen, Carolyn; Patel, Keyur P.; Preudhomme, Claude; Raslova, Hana; Rienhoff, Hugh; Ripperger, Tim; Schulte, Rachael; Tawana, Kiran; Velloso, Elvira; Yan, Benedict; Kim, Erika; NISC Comparative Sequencing Program, Amy P.; Hsu, Amy P.; Holland, Steven M.; Phillips, Kerry; Poplawski, Nicola K.; Babic, Milena; Wei, Andrew H.; Forsyth, Cecily; Fan, Helen Mar; Lewis, Ian D.; Cooney, Julian; Susman, Rachel; Fox, Lucy C.; Blombery, Piers; Singhal, Deepak; Hiwase, Devendra; Phipson, Belinda; Schreiber, Andreas W.; Hahn, Christopher N.; Scott, Hamish S.; Liu, Paul; Godley, Lucy A.; Brown, Anna L. Share Save
Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms Chovanec, Jack; Tunc, Ilker; Hughes, Jason; Halstead, Joseph; Mateja, Allyson; Liu, Yihui; O'Connell, Michael P.; Kim, Jiwon; Park, Young Hwan; Wang, Qinlu; Le, Quang; Pirooznia, Mehdi; Trivedi, Neil N.; Bai, Yun; Yin, Yuzhi; Hsu, Amy P.; McElwee, Joshua; Lassiter, Sheryce; Nelson, Celeste; Bandoh, Judy; DiMaggio, Thomas; Selb, Julij; Rijavec, Matija; Carter, Melody C.; Komarow, Hirsh D.; Sabato, Vito; Steinberg, Joshua; Hafer, Kurt M.; Feuille, Elizabeth; Hourigan, Christopher S.; Lack, Justin; Khoury, Paneez; Maric, Irina; Zanotti, Roberta; Bonadonna, Patrizia; Schwartz, Lawrence B.; Milner, Joshua D.; Glover, Sarah C.; Ebo, Didier G.; Korosec, Peter; Caughey, George H.; Brittain, Erica H.; Busby, Ben; Metcalfe, Dean D.; Lyons, Jonathan J. Share Save
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Address correspondence to: Steven M. Holland, Phone: 301.402.7684; Email: smh@nih.gov. Hsu, Amy P.; Korzeniowska, Agnieszka; Aguilar, Cynthia C.; Gu, Jingwen; Karlins, Eric; Oler, Andrew J.; Chen, Gang; Reynoso, Glennys, V; Davis, Joie; Chaput, Alexandria; Peng, Tao; Sun, Ling; Lack, Justin B.; Bays, Derek J.; Stewart, Ethan R.; Waldman, Sarah E.; Powell, Daniel A.; Donovan, Fariba M.; Desai, Jigar, V; Pouladi, Nima; Priel, Debra A. Long; Yamanaka, Daisuke; Rosenzweig, Sergio D.; Niemela, Julie E.; Stoddard, Jennifer; Freeman, Alexandra F.; Zerbe, Christa S.; Kuhns, Douglas B.; Lussier, Yves A.; Olivier, Kenneth N.; Boucher, Richard C.; Hickman, Heather D.; Frelinger, Jeffrey; Fierer, Joshua; Shubitz, Lisa F.; Leto, Thomas L.; Thompson, George R., III; Galgiani, John N.; Lionakis, Michail S.; Holland, Steven M. Share Save
Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis Drummond, Rebecca A.; Desai, Jigar V.; Hsu, Amy P.; Oikonomou, Vasileios; Vinh, Donald C.; Acklin, Joshua A.; Abers, Michael S.; Walkiewicz, Magdalena A.; Anzick, Sarah L.; Swamydas, Muthulekha; Vautier, Simon; Natarajan, Mukil; Oler, Andrew J.; Yamanaka, Daisuke; Mayer-Barber, Katrin D.; Iwakura, Yoichiro; Bianchi, David; Driscoll, Brian; Hauck, Ken; Kline, Ahnika; Viall, Nicholas S. P.; Zerbe, Christa S.; Ferre, Elise M. N.; Schmitt, Monica M.; DiMaggio, Tom; Pittaluga, Stefania; Butman, John A.; Zelazny, Adrian M.; Shea, Yvonne R.; Arias, Cesar A.; Ashbaugh, Cameron; Mahmood, Maryam; Temesgen, Zelalem; Theofiles, Alexander G.; Nigo, Masayuki; Moudgal, Varsha; Bloch, Karen C.; Kelly, Sean G.; Whitworth, M. Suzanne; Rao, Ganesh; Whitener, Cindy J.; Mafi, Neema; Gea-Banacloche, Juan; Kenyon, Lawrence C.; Miller, William R.; Boggian, Katia; Gilbert, Andrea; Sincock, Matthew; Freeman, Alexandra F.; Bennett, John E.; Hasbun, Rodrigo; Mikelis, Constantinos M.; Kwon-Chung, Kyung J.; Belkaid, Yasmine; Brown, Gordon D.; Lim, Jean K.; Kuhns, Douglas B.; Holland, Steven M.; Lionakis, Michail S. Share Save
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