Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
Sun Kuehn, Hye, Ouyang, Weiming, Lo, Bernice, Deenick, Elissa K., Niemela, Julie E., Avery, Danielle T., Schickel, Jean-Nicolas, Tran, Dat Q., Stoddard, Jennifer, Zhang, Yu, Frucht, David M., Dumitriu, Bogdan, Scheinberg, Phillip, Folio, Les R., Frein, Cathleen A., Price, Susan, Koh, Christopher, Heller, Theo, Seroogy, Christine M., Huttenlocher, Anna, Rao, V. Koneti, Su, Helen C., Kleiner, David, Notarangelo, Luigi D., Rampertaap, Yajesh, Olivier, Kenneth N., McElwee, Joshua, Hughes, Jason, Pittaluga, Stefania, Oliveira, Joao B., Meffre, Eric, Fleisher, Thomas A., Holland, Steven M., Lenardo, Michael J., Tangye, Stuart G., Uzel, Gulbu
Published in Science (American Association for the Advancement of Science) (26.09.2014)
Published in Science (American Association for the Advancement of Science) (26.09.2014)
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EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
Volpi, Stefano, Yamazaki, Yasuhiro, Brauer, Patrick M, van Rooijen, Ellen, Hayashida, Atsuko, Slavotinek, Anne, Sun Kuehn, Hye, Di Rocco, Maja, Rivolta, Carlo, Bortolomai, Ileana, Du, Likun, Felgentreff, Kerstin, Ott de Bruin, Lisa, Hayashida, Kazutaka, Freedman, George, Marcovecchio, Genni Enza, Capuder, Kelly, Rath, Prisni, Luche, Nicole, Hagedorn, Elliott J, Buoncompagni, Antonella, Royer-Bertrand, Beryl, Giliani, Silvia, Poliani, Pietro Luigi, Imberti, Luisa, Dobbs, Kerry, Poulain, Fabienne E, Martini, Alberto, Manis, John, Linhardt, Robert J, Bosticardo, Marita, Rosenzweig, Sergio Damian, Lee, Hane, Puck, Jennifer M, Zúñiga-Pflücker, Juan Carlos, Zon, Leonard, Park, Pyong Woo, Superti-Furga, Andrea, Notarangelo, Luigi D
Published in The Journal of experimental medicine (06.03.2017)
Published in The Journal of experimental medicine (06.03.2017)
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Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis
Leiding, Jennifer W., MD, Sriaroon, Panida, MD, Ly, Jean M.B., MD, Petrovic, Aleksandra, MD, Howard, Deborah L., MS, Shamblott, Michael, PhD, Kuehn, Hye-Sun, PhD, Fleisher, Thomas A., MD
Published in Annals of allergy, asthma, & immunology (01.07.2015)
Published in Annals of allergy, asthma, & immunology (01.07.2015)
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Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
Lalaoui, Najoua, Boyden, Steven E., Oda, Hirotsugu, Wood, Geryl M., Stone, Deborah L., Chau, Diep, Liu, Lin, Stoffels, Monique, Kratina, Tobias, Lawlor, Kate E., Zaal, Kristien J. M., Hoffmann, Patrycja M., Etemadi, Nima, Shield-Artin, Kristy, Biben, Christine, Tsai, Wanxia Li, Blake, Mary D., Kuehn, Hye Sun, Yang, Dan, Anderton, Holly, Silke, Natasha, Wachsmuth, Laurens, Zheng, Lixin, Moura, Natalia Sampaio, Beck, David B., Gutierrez-Cruz, Gustavo, Ombrello, Amanda K., Pinto-Patarroyo, Gineth P., Kueh, Andrew J., Herold, Marco J., Hall, Cathrine, Wang, Hongying, Chae, Jae Jin, Dmitrieva, Natalia I., McKenzie, Mark, Light, Amanda, Barham, Beverly K., Jones, Anne, Romeo, Tina M., Zhou, Qing, Aksentijevich, Ivona, Mullikin, James C., Gross, Andrew J., Shum, Anthony K., Hawkins, Edwin D., Masters, Seth L., Lenardo, Michael J., Boehm, Manfred, Rosenzweig, Sergio D., Pasparakis, Manolis, Voss, Anne K., Gadina, Massimo, Kastner, Daniel L., Silke, John
Published in Nature (London) (02.01.2020)
Published in Nature (London) (02.01.2020)
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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
Spencer, Sarah, Köstel Bal, Sevgi, Egner, William, Lango Allen, Hana, Raza, Syed I, Ma, Chi A, Gürel, Meltem, Zhang, Yuan, Sun, Guangping, Sabroe, Ruth A, Greene, Daniel, Rae, William, Shahin, Tala, Kania, Katarzyna, Ardy, Rico Chandra, Thian, Marini, Staples, Emily, Pecchia-Bekkum, Annika, Worrall, William P M, Stephens, Jonathan, Brown, Matthew, Tuna, Salih, York, Melanie, Shackley, Fiona, Kerrin, Diarmuid, Sargur, Ravishankar, Condliffe, Alison, Tipu, Hamid Nawaz, Kuehn, Hye Sun, Rosenzweig, Sergio D, Turro, Ernest, Tavaré, Simon, Thrasher, Adrian J, Jodrell, Duncan Ian, Smith, Kenneth G C, Boztug, Kaan, Milner, Joshua D, Thaventhiran, James E D
Published in The Journal of experimental medicine (02.09.2019)
Published in The Journal of experimental medicine (02.09.2019)
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Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease
Zhou, Qing, Yu, Xiaomin, Demirkaya, Erkan, Deuitch, Natalie, Stone, Deborah, Tsai, Wanxia Li, Kuehn, Hye Sun, Wang, Hongying, Yang, Dan, Park, Yong Hwan, Ombrello, Amanda K., Blake, Mary, Romeo, Tina, Remmers, Elaine F., Chae, Jae Jin, Mullikin, James C., Güzel, Ferhat, Milner, Joshua D., Boehm, Manfred, Rosenzweig, Sergio D., Gadina, Massimo, Welch, Steven B., Özen, Seza, Topaloglu, Rezan, Abinun, Mario, Kastner, Daniel L., Aksentijevich, Ivona
Published in Proceedings of the National Academy of Sciences - PNAS (06.09.2016)
Published in Proceedings of the National Academy of Sciences - PNAS (06.09.2016)
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Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
Kreins, Alexandra Y, Ciancanelli, Michael J, Okada, Satoshi, Kong, Xiao-Fei, Ramírez-Alejo, Noé, Kilic, Sara Sebnem, El Baghdadi, Jamila, Nonoyama, Shigeaki, Mahdaviani, Seyed Alireza, Ailal, Fatima, Bousfiha, Aziz, Mansouri, Davood, Nievas, Elma, Ma, Cindy S, Rao, Geetha, Bernasconi, Andrea, Sun Kuehn, Hye, Niemela, Julie, Stoddard, Jennifer, Deveau, Paul, Cobat, Aurelie, El Azbaoui, Safa, Sabri, Ayoub, Lim, Che Kang, Sundin, Mikael, Avery, Danielle T, Halwani, Rabih, Grant, Audrey V, Boisson, Bertrand, Bogunovic, Dusan, Itan, Yuval, Moncada-Velez, Marcela, Martinez-Barricarte, Ruben, Migaud, Melanie, Deswarte, Caroline, Alsina, Laia, Kotlarz, Daniel, Klein, Christoph, Muller-Fleckenstein, Ingrid, Fleckenstein, Bernhard, Cormier-Daire, Valerie, Rose-John, Stefan, Picard, Capucine, Hammarstrom, Lennart, Puel, Anne, Al-Muhsen, Saleh, Abel, Laurent, Chaussabel, Damien, Rosenzweig, Sergio D, Minegishi, Yoshiyuki, Tangye, Stuart G, Bustamante, Jacinta, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie
Published in The Journal of experimental medicine (21.09.2015)
Published in The Journal of experimental medicine (21.09.2015)
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Journal Article
Ikaros family zinc finger 1 regulates dendritic cell development and function in humans
Cytlak, Urszula, Resteu, Anastasia, Bogaert, Delfien, Kuehn, Hye Sun, Altmann, Thomas, Gennery, Andrew, Jackson, Graham, Kumanovics, Attila, Voelkerding, Karl V., Prader, Seraina, Dullaers, Melissa, Reichenbach, Janine, Hill, Harry, Haerynck, Filomeen, Rosenzweig, Sergio D., Collin, Matthew, Bigley, Venetia
Published in Nature communications (27.03.2018)
Published in Nature communications (27.03.2018)
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CARD9-Dependent Neutrophil Recruitment Protects against Fungal Invasion of the Central Nervous System
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
Published in PLoS pathogens (01.12.2015)
Published in PLoS pathogens (01.12.2015)
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Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies
Kuehn, Hye Sun, Niemela, Julie E., Stoddard, Jennifer, Mannurita, Sara Ciullini, Shahin, Tala, Goel, Shubham, Hintermeyer, Mary, Heredia, Raul Jimenez, Garofalo, Mary, Lucas, Laura, Singh, Smriti, Tondo, Annalisa, Jacobs, Zachary, Gahl, William A., Latour, Sylvain, Verbsky, James, Routes, John, Cunningham-Rundles, Charlotte, Boztug, Kaan, Gambineri, Eleonora, Fleisher, Thomas A., Chandrakasan, Shanmuganathan, Rosenzweig, Sergio D.
Published in Blood (21.01.2021)
Published in Blood (21.01.2021)
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Journal Article
Editorial: The role of transcription factors in inborn errors of immunity
Bogaert, Delfien J, Kuehn, Hye Sun, Bordon, Victoria, Haerynck, Filomeen
Published in Frontiers in immunology (27.03.2023)
Published in Frontiers in immunology (27.03.2023)
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Journal Article
A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects
Bogaert, Delfien J., Kuehn, Hye Sun, Bonroy, Carolien, Calvo, Katherine R., Dehoorne, Joke, Vanlander, Arnaud V., De Bruyne, Marieke, Cytlak, Urszula, Bigley, Venetia, De Baets, Frans, De Baere, Elfride, Rosenzweig, Sergio D., Haerynck, Filomeen, Dullaers, Melissa
Published in Journal of allergy and clinical immunology (01.01.2018)
Published in Journal of allergy and clinical immunology (01.01.2018)
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Journal Article
Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations
Kellner, Erinn S., Krupski, Christa, Kuehn, Hye Sun, Rosenzweig, Sergio D., Yoshida, Nao, Kojima, Seiji, Boutboul, David, Latour, Sylvain, Barlogis, Vincent, Galambrun, Claire, Stray-Pedersen, Asbjørg, Erichsen, Hans Christian, Marsh, Rebecca A.
Published in Journal of allergy and clinical immunology (01.07.2019)
Published in Journal of allergy and clinical immunology (01.07.2019)
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Journal Article
Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC
Oda, Hirotsugu, Beck, David B, Kuehn, Hye Sun, Sampaio Moura, Natalia, Hoffmann, Patrycja, Ibarra, Maria, Stoddard, Jennifer, Tsai, Wanxia Li, Gutierrez-Cruz, Gustavo, Gadina, Massimo, Rosenzweig, Sergio D, Kastner, Daniel L, Notarangelo, Luigi D, Aksentijevich, Ivona
Published in Frontiers in immunology (18.03.2019)
Published in Frontiers in immunology (18.03.2019)
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F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects
Calzoni, Enrica, Platt, Craig D., Keles, Sevgi, Kuehn, Hye Sun, Beaussant-Cohen, Sarah, Zhang, Yu, Pazmandi, Julia, Lanzi, Gaetana, Pala, Francesca, Tahiat, Azzeddine, Artac, Hasibe, Heredia, Raul Jimenez, Dmytrus, Jasmin, Reisli, Ismail, Uygun, Vedat, Uygun, Dilara, Bingol, Aysen, Basaran, Erdem, Djenouhat, Kamel, Benhalla, Nafissa, Bendahmane, Chafa, Emiroglu, Melike, Kirchhausen, Tomas, Pasham, Mithun, Jones, Jennifer, Wallace, Jacqueline G., Zheng, Lixin, Boisson, Bertrand, Porta, Fulvio, Rosenzweig, Sergio D., Su, Helen, Giliani, Silvia, Lenardo, Michael, Geha, Raif S., Boztug, Kaan, Chou, Janet, Notarangelo, Luigi D.
Published in Journal of allergy and clinical immunology (01.06.2019)
Published in Journal of allergy and clinical immunology (01.06.2019)
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Stem cell factor programs the mast cell activation phenotype
Ito, Tomonobu, Smrž, Daniel, Jung, Mi-Yeon, Bandara, Geethani, Desai, Avanti, Smržová, Šárka, Kuehn, Hye Sun, Beaven, Michael A, Metcalfe, Dean D, Gilfillan, Alasdair M
Published in The Journal of immunology (1950) (01.06.2012)
Published in The Journal of immunology (1950) (01.06.2012)
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STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation
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
Published in Frontiers in immunology (10.07.2019)
Published in Frontiers in immunology (10.07.2019)
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Patients With Natural Killer (NK) Cell Chronic Active Epstein-Barr Virus Have Immature NK Cells and Hyperactivation of PI3K/Akt/mTOR and STAT1 Pathways
Howe, Matthew K, Dowdell, Kennichi, Kuehn, Hye Sun, Li, Qingxue, Hart, Geoffrey T, Garabedian, Doreen, Liepshutz, Kelly, Hsu, Amy P, Su, Hua, Niemela, Julie E, Stoddard, Jennifer L, Uzel, Gulbu, Shereck, Evan, Schulz, Laura, Feldman, Tatyana, Rosenzweig, Sergio D, Long, Eric O, Dropulic, Lesia, Cohen, Jeffrey I
Published in The Journal of infectious diseases (01.09.2020)
Published in The Journal of infectious diseases (01.09.2020)
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Measuring mast cell mediator release
Kuehn, Hye Sun, Radinger, Madeleine, Gilfillan, Alasdair M
Published in Current protocols in immunology (01.11.2010)
Published in Current protocols in immunology (01.11.2010)
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