Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

por Gruber, Conor, Martin-Fernandez, Marta, Ailal, Fatima, Qiu, Xueer, Taft, Justin, Altman, Jennie, Rosain, Jérémie, Buta, Sofija, Bousfiha, Aziz, Casanova, Jean-Laurent, Bustamante, Jacinta, Bogunovic, Dusan
Publicado 2020

ISG15 deficiency restricts HIV-1 infection

por Jurczyszak, Denise, Manganaro, Lara, Buta, Sofija, Gruber, Conor, Martin-Fernandez, Marta, Taft, Justin, Patel, Roosheel S., Cipolla, Melissa, Alshammary, Hala, Mulder, Lubbertus C. F., Sachidanandam, Ravi, Bogunovic, Dusan, Simon, Viviana
Publicado 2022

An ACE2 Triple Decoy that neutralizes SARS-CoV-2 shows enhanced affinity for virus variants

por Tanaka, Shiho, Nelson, Gard, Olson, C. Anders, Buzko, Oleksandr, Higashide, Wendy, Shin, Annie, Gonzalez, Marcos, Taft, Justin, Patel, Roosheel, Buta, Sofija, Richardson, Ashley, Bogunovic, Dusan, Spilman, Patricia, Niazi, Kayvan, Rabizadeh, Shahrooz, Soon-Shiong, Patrick
Publicado 2021

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

por Gruber, Conor N., Calis, Jorg J.A., Buta, Sofija, Evrony, Gilad, Martin, Jerome C., Uhl, Skyler A., Caron, Rachel, Jarchin, Lauren, Dunkin, David, Phelps, Robert, Webb, Bryn D., Saland, Jeffrey M., Merad, Miriam, Orange, Jordan S., Mace, Emily M., Rosenberg, Brad R., Gelb, Bruce D., Bogunovic, Dusan
Publicado 2020

Selective IgA(2) deficiency in a patient with small intestinal Crohn’s disease

por Canales-Herrerias, Pablo, Garcia-Carmona, Yolanda, Shang, Joan, Meringer, Hadar, Yee, Debra S., Radigan, Lin, Buta, Sofija, Martinez-Delgado, Gustavo, Tankelevich, Michael, Helmus, Drew, Dubinsky, Marla, Everts-van der Mind, Annelie, Dervieux, Thierry, Bogunovic, Dusan, Colombel, Jean-Frederic, Brenchley, Jason M., Faith, Jeremiah, Cunningham-Rundles, Charlotte, Cerutti, Andrea, Mehandru, Saurabh
Publicado 2023

Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c(+) B cells

por Malle, Louise, Patel, Roosheel S., Martin-Fernandez, Marta, Stewart, O Jay, Philippot, Quentin, Buta, Sofija, Richardson, Ashley, Barcessat, Vanessa, Taft, Justin, Bastard, Paul, Samuels, Julie, Mircher, Clotilde, Rebillat, Anne-Sophie, Maillebouis, Louise, Vilaire-Meunier, Marie, Tuballes, Kevin, Rosenberg, Brad R., Trachtman, Rebecca, Casanova, Jean-Laurent, Notarangelo, Luigi D., Gnjatic, Sacha, Bush, Douglas, Bogunovic, Dusan
Publicado 2023

ISG15 deficiency and increased viral resistance in humans but not mice

por Speer, Scott D., Li, Zhi, Buta, Sofija, Payelle-Brogard, Béatrice, Qian, Li, Vigant, Frederic, Rubino, Erminia, Gardner, Thomas J., Wedeking, Tim, Hermann, Mark, Duehr, James, Sanal, Ozden, Tezcan, Ilhan, Mansouri, Nahal, Tabarsi, Payam, Mansouri, Davood, Francois-Newton, Véronique, Daussy, Coralie F., Rodriguez, Marisela R., Lenschow, Deborah J., Freiberg, Alexander N., Tortorella, Domenico, Piehler, Jacob, Lee, Benhur, García-Sastre, Adolfo, Pellegrini, Sandra, Bogunovic, Dusan
Publicado 2016

A partial form of inherited human USP18 deficiency underlies infection and inflammation

por Martin-Fernandez, Marta, Buta, Sofija, Le Voyer, Tom, Li, Zhi, Dynesen, Lasse Toftdal, Vuillier, Françoise, Franklin, Lina, Ailal, Fatima, Muglia Amancio, Alice, Malle, Louise, Gruber, Conor, Benhsaien, Ibtihal, Altman, Jennie, Taft, Justin, Deswarte, Caroline, Roynard, Manon, Nieto-Patlan, Alejandro, Moriya, Kunihiko, Rosain, Jérémie, Boddaert, Nathalie, Bousfiha, Aziz, Crow, Yanick J., Jankovic, Dragana, Sher, Alan, Casanova, Jean-Laurent, Pellegrini, Sandra, Bustamante, Jacinta, Bogunovic, Dusan
Publicado 2022

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

por Meuwissen, Marije E.C., Schot, Rachel, Buta, Sofija, Oudesluijs, Grétel, Tinschert, Sigrid, Speer, Scott D., Li, Zhi, van Unen, Leontine, Heijsman, Daphne, Goldmann, Tobias, Lequin, Maarten H., Kros, Johan M., Stam, Wendy, Hermann, Mark, Willemsen, Rob, Brouwer, Rutger W.W., Van IJcken, Wilfred F.J., Martin-Fernandez, Marta, de Coo, Irenaeus, Dudink, Jeroen, de Vries, Femke A.T., Bertoli Avella, Aida, Prinz, Marco, Crow, Yanick J., Verheijen, Frans W., Pellegrini, Sandra, Bogunovic, Dusan, Mancini, Grazia M.S.
Publicado 2016

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

por Martin-Fernandez, Marta, García-Morato, María Bravo, Gruber, Conor, Loza, Sara Murias, Malik, Muhammad Nasir Hayat, Alsohime, Fahad, Alakeel, Abdullah, Valdez, Rita, Buta, Sofija, Buda, Guadalupe, Marti, Marcelo A., Larralde, Margarita, Boisson, Bertrand, Rodriguez, Marta Feito, Qiu, Xueer, Chrabieh, Maya, Ayed, Mohammed Al, Muhsen, Saleh Al, Desai, Jigar V., Ferre, Elise M.N., Rosenzweig, Sergio D., Amador-Borrero, Blanca, Bravo-Gallego, Luz Yadira, Olmer, Ruth, Merkert, Sylvia, Bret, Montserrat, Sood, Amika K., Al-rabiaah, Abdulkarim, Temsah, Mohamad Hani, Halwani, Rabih, Hernandez, Michelle, Pessler, Frank, Casanova, Jean-Laurent, Bustamante, Jacinta, Lionakis, Michail S., Bogunovic, Dusan
Publicado 2020