Editorial: The role of transcription factors in inborn errors of immunity

por Bogaert, Delfien J., Kuehn, Hye Sun, Bordon, Victoria, Haerynck, Filomeen
Publicado 2023

N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects

por Nunes-Santos, Cristiane J., Kuehn, Hye Sun, Rosenzweig, Sergio D.
Publicado 2020

Ikaros-Associated Diseases: From Mice to Humans and Back Again

por Boast, Brigette, Nunes-Santos, Cristiane de Jesus, Kuehn, Hye Sun, Rosenzweig, Sergio D.
Publicado 2021

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC

por 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
Publicado 2019

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

por 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
Publicado 2018

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

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

por 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
Publicado 2018

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes

por Bogaert, Delfien J., Dullaers, Melissa, Kuehn, Hye Sun, Leroy, Bart P., Niemela, Julie E., De Wilde, Hans, De Schryver, Sarah, De Bruyne, Marieke, Coppieters, Frauke, Lambrecht, Bart N., De Baets, Frans, Rosenzweig, Sergio D., De Baere, Elfride, Haerynck, Filomeen
Publicado 2017

Severe SARS-CoV-2 disease in the context of a NF-κB2 loss-of-function pathogenic variant

por Abraham, Roshini S., Marshall, Joanna M., Kuehn, Hye Sun, Rueda, Cesar M., Gibbs, Amber, Guider, Will, Stewart, Claire, Rosenzweig, Sergio D., Wang, Huanyu, Jean, Sophonie, Peeples, Mark, King, Tiffany, Hunt, W. Garrett, Honegger, Jonathan R., Ramilo, Octavio, Mustillo, Peter J., Mejias, Asuncion, Ardura, Monica I., Shimamura, Masako
Publicado 2021

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients

por Kuehn, Hye Sun, Chang, Jingjie, Yamashita, Motoi, Niemela, Julie E., Zou, Chengcheng, Okuyama, Kazuki, Harada, Junji, Stoddard, Jennifer L., Nunes-Santos, Cristiane J., Boast, Brigette, Baxter, Ryan M., Hsieh, Elena W.Y., Garofalo, Mary, Fleisher, Thomas A., Morio, Tomohiro, Taniuchi, Ichiro, Dutmer, Cullen M., Rosenzweig, Sergio D.
Publicado 2021

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

por Purswani, Pooja, Meehan, Cristina Adelia, Kuehn, Hye Sun, Chang, Yenhui, Dasso, Joseph F., Meyer, Anna K., Ujhazi, Boglarka, Csomos, Krisztian, Lindsay, David, Alberdi, Taylor, Joychan, Sonia, Trotter, Jessica, Duff, Carla, Ellison, Maryssa, Bleesing, Jack, Kumanovics, Attila, Comeau, Anne M., Hale, Jaime E., Notarangelo, Luigi D., Torgersen, Troy R., Ochs, Hans D., Sriaroon, Panida, Oshrine, Benjamin, Petrovic, Aleksandra, Rosenzweig, Sergio D., Leiding, Jennifer W., Walter, Jolan E.
Publicado 2019

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

Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation

por Shahin, Tala, Mayr, Daniel, Shoeb, Mohamed R., Kuehn, Hye Sun, Hoeger, Birgit, Giuliani, Sarah, Gawriyski, Lisa M., Petronczki, Özlem Yüce, Hadjadj, Jérôme, Bal, Sevgi Köstel, Zoghi, Samaneh, Haimel, Matthias, Jimenez Heredia, Raul, Boutboul, David, Triebwasser, Michael P., Rialland-Battisti, Fanny, Costedoat Chalumeau, Nathalie, Quartier, Pierre, Tangye, Stuart G., Fleisher, Thomas A., Rezaei, Nima, Romberg, Neil, Latour, Sylvain, Varjosalo, Markku, Halbritter, Florian, Rieux-Laucat, Frédéric, Castanon, Irinka, Rosenzweig, Sergio D., Boztug, Kaan
Publicado 2022

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

por Nunes-Santos, Cristiane J., Kuehn, HyeSun, Boast, Brigette, Hwang, SuJin, Kuhns, Douglas B., Stoddard, Jennifer, Niemela, Julie E., Fink, Danielle L., Pittaluga, Stefania, Abu-Asab, Mones, Davies, John S., Barr, Valarie A., Kawai, Tomoki, Delmonte, Ottavia M., Bosticardo, Marita, Garofalo, Mary, Carneiro-Sampaio, Magda, Somech, Raz, Gharagozlou, Mohammad, Parvaneh, Nima, Samelson, Lawrence E., Fleisher, Thomas A., Puel, Anne, Notarangelo, Luigi D., Boisson, Bertrand, Casanova, Jean-Laurent, Derfalvi, Beata, Rosenzweig, Sergio D.
Publicado 2023

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

por 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.
Publicado 2019

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

por 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
Publicado 2019

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

por Le Voyer, Tom, Parent, Audrey V., Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng, Bizien, Lucy, Hancioglu, Gonca, Ghillani-Dalbin, Pascale, Charuel, Jean-Luc, Philippot, Quentin, Gueye, Mame Sokhna, Maglorius Renkilaraj, Majistor Raj Luxman, Ogishi, Masato, Soudée, Camille, Migaud, Mélanie, Rozenberg, Flore, Momenilandi, Mana, Riller, Quentin, Imberti, Luisa, Delmonte, Ottavia M., Müller, Gabriele, Keller, Baerbel, Orrego, Julio, Franco Gallego, William Alexander, Rubin, Tamar, Emiroglu, Melike, Parvaneh, Nima, Eriksson, Daniel, Aranda-Guillen, Maribel, Berrios, David I., Vong, Linda, Katelaris, Constance H., Mustillo, Peter, Raedler, Johannes, Bohlen, Jonathan, Bengi Celik, Jale, Astudillo, Camila, Winter, Sarah, McLean, Catriona, Guffroy, Aurélien, DeRisi, Joseph L., Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey B., Holland, Steve M., Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte A., Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini S., Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M. Cecilia, Slatter, Mary A., Palterer, Boaz, Keller, Michael D., Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria Elena, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher C., Gray, Paul E., Belot, Alexandre, Kuehn, Hye Sun, Rosenzweig, Sergio D., Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart G., Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa L., Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim M., Landegren, Nils, Notarangelo, Luigi D., Anderson, Mark S., Casanova, Jean-Laurent, Puel, Anne
Publicado 2023