PIRD: Primary Immune Regulatory Disorders, A Growing Universe of Immune Dysregulation

per Chan, Alice Y., Torgerson, Troy R.
Publicat a Curr Opin Allergy Clin Immunol (2020)

Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation

per Punwani, Divya, Wang, Haopeng, Chan, Alice Y., Cowan, Morton J., Mallott, Jacob, Sunderam, Uma, Mollenauer, Marianne, Srinivasan, Rajgopal, Brenner, Steven E., Mulder, Arend, Claas, Frans H. J., Weiss, Arthur, Puck, Jennifer M.
Publicat a J Clin Immunol (2015)

B cell-intrinsic CD84 and Ly108 maintain germinal center B cell tolerance

per Wong, Eric B., Soni, Chetna, Chan, Alice Y., Domeier, Phillip P., Shwetank, Abraham, Thomas, Limaye, Nisha, Khan, Tahsin N., Elias, Melinda J., Chodisetti, Sathi Babu, Wakeland, Edward K., Rahman, Ziaur S.M.
Publicat a J Immunol (2015)

Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq

per Vazquez, Sara E, Ferré, Elise MN, Scheel, David W, Sunshine, Sara, Miao, Brenda, Mandel-Brehm, Caleigh, Quandt, Zoe, Chan, Alice Y, Cheng, Mickie, German, Michael, Lionakis, Michail, DeRisi, Joseph L, Anderson, Mark S
Publicat a eLife (2020)

A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70

per Chan, Alice Y., Punwani, Divya, Kadlecek, Theresa A., Cowan, Morton J., Olson, Jean L., Mathes, Erin F., Sunderam, Uma, Man Fu, Shu, Srinivasan, Rajgopal, Kuriyan, John, Brenner, Steven E., Weiss, Arthur, Puck, Jennifer M.
Publicat a J Exp Med (2016)

A human mutation in STAT3 promotes type 1 diabetes through a defect in CD8(+) T cell tolerance

per Warshauer, Jeremy T., Belk, Julia A., Chan, Alice Y., Wang, Jiaxi, Gupta, Alexander R., Shi, Quanming, Skartsis, Nikolaos, Peng, Yani, Phipps, Jonah D., Acenas, Dante, Smith, Jennifer A., Tamaki, Stanley J., Tang, Qizhi, Gardner, James M., Satpathy, Ansuman T., Anderson, Mark S.
Publicat a J Exp Med (2021)

A large CRISPR-induced bystander mutation causes immune dysregulation

per Simeonov, Dimitre R., Brandt, Alexander J., Chan, Alice Y., Cortez, Jessica T., Li, Zhongmei, Woo, Jonathan M., Lee, Youjin, Carvalho, Claudia M. B., Indart, Alyssa C., Roth, Theodore L., Zou, James, May, Andrew P., Lupski, James R., Anderson, Mark S., Buaas, F. William, Rokhsar, Daniel S., Marson, Alexander
Publicat a Commun Biol (2019)

Analysis of pulmonary features and treatment approaches in the COPA syndrome

per Tsui, Jessica L., Estrada, Oscar A., Deng, Zimu, Wang, Kristin M., Law, Christopher S., Elicker, Brett M., Jones, Kirk D., Dell, Sharon D., Gudmundsson, Gunnar, Hansdottir, Sif, Helfgott, Simon M., Volpi, Stefano, Gattorno, Marco, Waterfield, Michael R., Chan, Alice Y., Chung, Sharon A., Ley, Brett, Shum, Anthony K.
Publicat a ERJ Open Res (2018)

Discovery of stimulation-responsive immune enhancers with CRISPR activation

per Simeonov, Dimitre R., Gowen, Benjamin G., Boontanrart, Mandy, Roth, Theodore L., Gagnon, John D., Mumbach, Maxwell R., Satpathy, Ansuman T., Lee, Youjin, Bray, Nicolas L., Chan, Alice Y., Lituiev, Dmytro S., Nguyen, Michelle L., Gate, Rachel E., Subramaniam, Meena, Li, Zhongmei, Woo, Jonathan M., Mitros, Therese, Ray, Graham J., Curie, Gemma L., Naddaf, Nicki, Chu, Julia S., Ma, Hong, Boyer, Eric, Van Gool, Frederic, Huang, Hailiang, Liu, Ruize, Tobin, Victoria R., Schumann, Kathrin, Daly, Mark J., Farh, Kyle K, Ansel, K. Mark, Ye, Chun J., Greenleaf, William J., Anderson, Mark S., Bluestone, Jeffrey A., Chang, Howard Y., Corn, Jacob E., Marson, Alexander
Publicat a Nature (2017)

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

per Chan, Alice Y., Leiding, Jennifer W., Liu, Xuerong, Logan, Brent R., Burroughs, Lauri M., Allenspach, Eric J., Skoda-Smith, Suzanne, Uzel, Gulbu, Notarangelo, Luigi D., Slatter, Mary, Gennery, Andrew R., Smith, Angela R., Pai, Sung-Yun, Jordan, Michael B., Marsh, Rebecca A., Cowan, Morton J., Dvorak, Christopher C., Craddock, John A., Prockop, Susan E., Chandrakasan, Shanmuganathan, Kapoor, Neena, Buckley, Rebecca H., Parikh, Suhag, Chellapandian, Deepak, Oshrine, Benjamin R., Bednarski, Jeffrey J., Cooper, Megan A., Shenoy, Shalini, Davila Saldana, Blachy J., Forbes, Lisa R., Martinez, Caridad, Haddad, Elie, Shyr, David C., Chen, Karin, Sullivan, Kathleen E., Heimall, Jennifer, Wright, Nicola, Bhatia, Monica, Cuvelier, Geoffrey D. E., Goldman, Frederick D., Meyts, Isabelle, Miller, Holly K., Seidel, Markus G., Vander Lugt, Mark T., Bacchetta, Rosa, Weinacht, Katja G., Andolina, Jeffrey R., Caywood, Emi, Chong, Hey, de la Morena, Maria Teresa, Aquino, Victor M., Shereck, Evan, Walter, Jolan E., Dorsey, Morna J., Seroogy, Christine M., Griffith, Linda M., Kohn, Donald B., Puck, Jennifer M., Pulsipher, Michael A., Torgerson, Troy R.
Publicat a Front Immunol (2020)

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

per de Jesus, Adriana A., Hou, Yangfeng, Brooks, Stephen, Malle, Louise, Biancotto, Angelique, Huang, Yan, Calvo, Katherine R., Marrero, Bernadette, Moir, Susan, Oler, Andrew J., Deng, Zuoming, Montealegre Sanchez, Gina A., Ahmed, Amina, Allenspach, Eric, Arabshahi, Bita, Behrens, Edward, Benseler, Susanne, Bezrodnik, Liliana, Bout-Tabaku, Sharon, Brescia, AnneMarie C., Brown, Diane, Burnham, Jon M., Caldirola, Maria Soledad, Carrasco, Ruy, Chan, Alice Y., Cimaz, Rolando, Dancey, Paul, Dare, Jason, DeGuzman, Marietta, Dimitriades, Victoria, Ferguson, Ian, Ferguson, Polly, Finn, Laura, Gattorno, Marco, Grom, Alexei A., Hanson, Eric P., Hashkes, Philip J., Hedrich, Christian M., Herzog, Ronit, Horneff, Gerd, Jerath, Rita, Kessler, Elizabeth, Kim, Hanna, Kingsbury, Daniel J., Laxer, Ronald M., Lee, Pui Y., Lee-Kirsch, Min Ae, Lewandowski, Laura, Li, Suzanne, Lilleby, Vibke, Mammadova, Vafa, Moorthy, Lakshmi N., Nasrullayeva, Gulnara, O’Neil, Kathleen M., Onel, Karen, Ozen, Seza, Pan, Nancy, Pillet, Pascal, Piotto, Daniela G.P., Punaro, Marilynn G., Reiff, Andreas, Reinhardt, Adam, Rider, Lisa G., Rivas-Chacon, Rafael, Ronis, Tova, Rösen-Wolff, Angela, Roth, Johannes, Ruth, Natasha Mckerran, Rygg, Marite, Schmeling, Heinrike, Schulert, Grant, Scott, Christiaan, Seminario, Gisella, Shulman, Andrew, Sivaraman, Vidya, Son, Mary Beth, Stepanovskiy, Yuriy, Stringer, Elizabeth, Taber, Sara, Terreri, Maria Teresa, Tifft, Cynthia, Torgerson, Troy, Tosi, Laura, Van Royen-Kerkhof, Annet, Wampler Muskardin, Theresa, Canna, Scott W., Goldbach-Mansky, Raphaela
Publicat a J Clin Invest (2020)

Primary immunodeficiency diseases – genomic approaches delineate heterogeneous Mendelian disorders

per Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K., Akdemir, Zeynep H. Coban, Erichsen, Hans Christian, Forbes, Lisa R., Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Muzny, Donna M., Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K., Noroski, Lenora M., Seeborg, Filiz O., Davis, Carla, Canter, Debra, Mace, Emily M., Vece, Tim, Allen, Carl E., Abhyankar, Harshal A., Boone, Phil, Beck, Christine R., Wiszniewski, Wojciech Krysztof, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F., Abrahamsen, Tore G., Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv T., Kulseth, Mari Ann, Prescott, Trine E., Rustad, Cecilie F., Heimdal, Ketil R., Belmont, John W., Rider, Nicholas, Chinen, Javier, Cao, Tram, Smith, Eric, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J. Espinosa, Guerrero, Denisse, Pedroza, Luis Alberto, Poli, Cecilia M., Franco, Jose L., Vargas, Claudia M. Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B., Issekutz, Andrew C., Abbott, Jordan, Caldwell, Jason W., Bayer, Diana K., Chan, Alice Y., Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gozde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K., Ehlayel, Mohammad S., Jolles, Stephen, Flatø, Berit, Bertuch, Alison A., Hanson, I. Celine, Zhang, Victor W., Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine, Boerwinkle, Eric, Gibbs, Richard A., Shearer, William T., Lyle, Robert, Orange, Jordan S., Lupski, James R.
Publicat a J Allergy Clin Immunol (2016)