Genetic and Other Determinants for the Severity of Coccidioidomycosis: A Clinician’s Perspective

por Galgiani, John N., Hsu, Amy P., Powell, Daniel A., Vyas, Jatin M., Holland, Steven M.
Publicado 2023

West Nile virus encephalitis in GATA2 deficiency

por Rosa, Jaime S., Kappagoda, Shanthi, Hsu, Amy P., Davis, Joie, Holland, Steven M., Liu, Anne Y.
Publicado 2019

A novel NEMO/IKBKG mutation identified in a primary immunodeficiency disorder with recurrent atypical mycobacterial infections

por Kolitz, Elysha, Chamseddin, Bahir, Son, Rosemary, Vandergriff, Travis, Hsu, Amy P., Holland, Steven, Wang, Richard C.
Publicado 2020

Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations

por Mir, Muhammad A, Kochuparambil, Samith T, Abraham, Roshini S, Rodriguez, Vilmarie, Howard, Matthew, Hsu, Amy P, Jackson, Amie E, Holland, Steven M, Patnaik, Mrinal M
Publicado 2015

Vaccine Protection of Mice With Primary Immunodeficiencies Against Disseminated Coccidioidomycosis

por Powell, Daniel A., Hsu, Amy P., Butkiewicz, Christine D., Trinh, Hien T., Frelinger, Jeffrey A., Holland, Steven M., Galgiani, John N., Shubitz, Lisa F.
Publicado 2022

Brain Abscess as Severe Presentation of Specific Granule Deficiency

por Leszcynska, Maria, Patel, Bhumika, Morrow, Matthew, Chamizo, Wil, Tuite, Gerald, Berman, David M., Potthast, Kevin, Hsu, Amy P., Holland, Steven M., Leiding, Jennifer W.
Publicado 2020

Reactivation of Coccidioidomycosis in a Mouse Model of Asymptomatic Controlled Disease

por Shubitz, Lisa F., Powell, Daniel A., Dial, Sharon M., Butkiewicz, Christine D., Trinh, Hien T., Hsu, Amy P., Buntzman, Adam, Frelinger, Jeffrey A., Galgiani, John N.
Publicado 2022

Fatal CTLA‐4 heterozygosity with autoimmunity and recurrent infections: a de novo mutation

por Moraes‐Fontes, Maria Francisca, Hsu, Amy P., Caramalho, Iris, Martins, Catarina, Araújo, Ana Carolina, Lourenço, Filipa, Taulaigo, Anna V., Lladó, Ana, Holland, Steven M., Uzel, Gulbu
Publicado 2017

42. Common Population Variants Cause Susceptibility to Disseminated Coccidioidomycosis

por Hsu, Amy P, Davis, Joie, Chaput, Alexandria L, Powell, Daniel A, Pouladi, Nima, Lussier, Yves, Fierer, Joshua, Frelinger, Jeffrey A, Galgiani, John N, Lionakis, Michail, Holland, Steven M
Publicado 2020

Generation of human induced pluripotent stem cell lines (NIHTVBi011-A, NIHTVBi012-A, NIHTVBi013-A) from autosomal dominant Hyper IgE syndrome (AD-HIES) patients carrying STAT3 muta...

por Jin, Hui, Yu, Zhen, Navarengom, Keron, Liu, Yangtengyu, Dmitrieva, Natalia, Hsu, Amy P., Schwartzbeck, Robin, Cudrici, Cornelia, Ferrante, Elisa A., Yang, Dan, Holland, Steven M., Freeman, Alexandra F., Boehm, Manfred, Chen, Guibin
Publicado 2019

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome

por West, Robert R., Calvo, Katherine R., Embree, Lisa J., Wang, Weixin, Tuschong, Laura M., Bauer, Thomas R., Tillo, Desiree, Lack, Justin, Droll, Stephenie, Hsu, Amy P., Holland, Steven M., Hickstein, Dennis D.
Publicado 2022

Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation

por McReynolds, Lisa J., Zhang, Yubo, Yang, Yanqin, Tang, Jingrong, Mulé, Matthew, Hsu, Amy P., Townsley, Danielle M., West, Robert R., Zhu, Jun, Hickstein, Dennis D., Holland, Steven M., Calvo, Katherine R., Hourigan, Christopher S.
Publicado 2019

Colitis susceptibility in p47(phox−/−) mice is mediated by the microbiome

por Falcone, E. Liana, Abusleme, Loreto, Swamydas, Muthulekha, Lionakis, Michail S., Ding, Li, Hsu, Amy P., Zelazny, Adrian M., Moutsopoulos, Niki M., Kuhns, Douglas B., Deming, Clay, Quiñones, Mariam, Segre, Julia A., Bryant, Clare E., Holland, Steven M.
Publicado 2016

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation

por Zimmerman, Ofer, Olbrich, Peter, Freeman, Alexandra F., Rosen, Lindsey B., Uzel, Gulbu, Zerbe, Christa S., Rosenzweig, Sergio D., Kuehn, Hye Sun, Holmes, Kevin L., Stephany, David, Ding, Li, Sampaio, Elizabeth P., Hsu, Amy P., Holland, Steven M.
Publicado 2019

A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency

por Amarnani, Abhimanyu A., Poladian, Katlin R., Marciano, Beatriz E., Daub, Janine R., Williams, Sandra G., Livinski, Alicia A., Hsu, Amy P., Palmer, Cindy L., Kenney, Cara M., Avila, Daniele N., Holland, Steven M., Katz, James D.
Publicado 2020

Constructing and deconstructing GATA2-regulated cell fate programs to establish developmental trajectories

por Johnson, Kirby D., Conn, Daniel J., Shishkova, Evgenia, Katsumura, Koichi R., Liu, Peng, Shen, Siqi, Ranheim, Erik A., Kraus, Sean G., Wang, Weixin, Calvo, Katherine R., Hsu, Amy P., Holland, Steven M., Coon, Joshua J., Keles, Sunduz, Bresnick, Emery H.
Publicado 2020

Pediatric CNS-isolated hemophagocytic lymphohistiocytosis

por Benson, Leslie A., Li, Hojun, Henderson, Lauren A., Solomon, Isaac H., Soldatos, Ariane, Murphy, Jennifer, Bielekova, Bibiana, Kennedy, Alyssa L., Rivkin, Michael J., Davies, Kimberly J., Hsu, Amy P., Holland, Steven M., Gahl, William A., Sundel, Robert P., Lehmann, Leslie E., Lee, Michelle A., Alexandrescu, Sanda, Degar, Barbara A., Duncan, Christine N., Gorman, Mark P.
Publicado 2019

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype

por Lee, Younglang, Wessel, Alex W., Xu, Jiazhi, Reinke, Julia G., Lee, Eries, Kim, Somin M., Hsu, Amy P., Zilberman-Rudenko, Jevgenia, Cao, Sha, Enos, Clinton, Brooks, Stephen R., Deng, Zuoming, Lin, Bin, de Jesus, Adriana A., Hupalo, Daniel N., Piotto, Daniela G.P., Terreri, Maria T., Dimitriades, Victoria R., Dalgard, Clifton L., Holland, Steven M., Goldbach-Mansky, Raphaela, Siegel, Richard M., Hanson, Eric P.
Publicado 2022

CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System

por Drummond, Rebecca A., Collar, Amanda L., Swamydas, Muthulekha, Rodriguez, Carlos A., Lim, Jean K., Mendez, Laura M., Fink, Danielle L., Hsu, Amy P., Zhai, Bing, Karauzum, Hatice, Mikelis, Constantinos M., Rose, Stacey R., Ferre, Elise M. N., Yockey, Lynne, Lemberg, Kimberly, Kuehn, Hye Sun, Rosenzweig, Sergio D., Lin, Xin, Chittiboina, Prashant, Datta, Sandip K., Belhorn, Thomas H., Weimer, Eric T., Hernandez, Michelle L., Hohl, Tobias M., Kuhns, Douglas B., Lionakis, Michail S.
Publicado 2015

Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms

por 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, Šelb, 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., Korošec, Peter, Caughey, George H., Brittain, Erica H., Busby, Ben, Metcalfe, Dean D., Lyons, Jonathan J.
Publicado 2022