An ACE2 Triple Decoy that neutralizes SARS-CoV-2 shows enhanced affinity for virus variants
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
Published in Scientific reports (17.06.2021)
Published in Scientific reports (17.06.2021)
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Journal Article
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency
Alsohime, Fahad, Martin-Fernandez, Marta, Temsah, Mohamad-Hani, Alabdulhafid, Majed, Le Voyer, Tom, Alghamdi, Malak, Qiu, Xueer, Alotaibi, Najla, Alkahtani, Areej, Buta, Sofija, Jouanguy, Emmanuelle, Al-Eyadhy, Ayman, Gruber, Conor, Hasan, Gamal M, Bashiri, Fahad A, Halwani, Rabih, Hassan, Hamdy H, Al-Muhsen, Saleh, Alkhamis, Nouf, Alsum, Zobaida, Casanova, Jean-Laurent, Bustamante, Jacinta, Bogunovic, Dusan, Alangari, Abdullah A
Published in The New England journal of medicine (16.01.2020)
Published in The New England journal of medicine (16.01.2020)
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Journal Article
ISG15 deficiency and increased viral resistance in humans but not mice
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
Published in Nature communications (19.05.2016)
Published in Nature communications (19.05.2016)
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Journal Article
A partial form of inherited human USP18 deficiency underlies infection and inflammation
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
Published in The Journal of experimental medicine (04.04.2022)
Published in The Journal of experimental medicine (04.04.2022)
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Journal Article
ISG15 deficiency restricts HIV-1 infection
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
Published in PLoS pathogens (01.03.2022)
Published in PLoS pathogens (01.03.2022)
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Journal Article
Selective IgA2 deficiency in a patient with small intestinal Crohn's disease
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
Published in The Journal of clinical investigation (15.06.2023)
Published in The Journal of clinical investigation (15.06.2023)
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Journal Article
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome
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
Published in The Journal of experimental medicine (27.06.2016)
Published in The Journal of experimental medicine (27.06.2016)
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Journal Article
Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy
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
Published in The Journal of experimental medicine (04.05.2020)
Published in The Journal of experimental medicine (04.05.2020)
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Journal Article
Aberrant JAK/STAT Signaling in Nephrotic Syndrome: PUB277
Shen, Carol L., Malle, Louise, Richardson, Ashley, Buta, Sofija, Saland, Jeffrey, Bogunovic, Dusan
Published in Journal of the American Society of Nephrology (01.11.2022)
Published in Journal of the American Society of Nephrology (01.11.2022)
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Journal Article
ISG15 Deficiency: An expanding phenotype
Sazeides, Christos, Martin-Fernandez, Marta, Buta, Sofija, Milner, Joshua, Boneparth, Alexis, Bogunovic, Dusan
Published in Clinical immunology (Orlando, Fla.) (01.05.2023)
Published in Clinical immunology (Orlando, Fla.) (01.05.2023)
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Journal Article
SAMHD1 deficient human monocytes autonomously trigger type I interferon
Martinez-Lopez, Alicia, Martin-Fernandez, Marta, Buta, Sofija, Kim, Baek, Bogunovic, Dusan, Diaz-Griffero, Felipe
Published in Molecular immunology (01.09.2018)
Published in Molecular immunology (01.09.2018)
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Journal Article
Tofacitinib Suppresses JAK/STAT Pathway Hyperactivity Ex Vivo in Pediatric Focal Segmental Glomerulosclerosis: TH-PO487
Shen, Carol L., Richardson, Ashley, Martin-Fernandez, Marta, Malle, Louise, Buta, Sofija, Patel, Aum, Rosberger, Haylen, Lim, Jean, Horesh, Michael E., Saland, Jeffrey, Bogunovic, Dusan
Published in Journal of the American Society of Nephrology (01.11.2023)
Published in Journal of the American Society of Nephrology (01.11.2023)
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Journal Article
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death
Taft, Justin, Markson, Michael, Legarda, Diana, Patel, Roosheel, Chan, Mark, Malle, Louise, Richardson, Ashley, Gruber, Conor, Martín-Fernández, Marta, Mancini, Grazia M.S., van Laar, Jan A.M., van Pelt, Philomine, Buta, Sofija, Wokke, Beatrijs H.A., Sabli, Ira K.D., Sancho-Shimizu, Vanessa, Chavan, Pallavi Pimpale, Schnappauf, Oskar, Khubchandani, Raju, Cüceoğlu, Müşerref Kasap, Özen, Seza, Kastner, Daniel L., Ting, Adrian T., Aksentijevich, Ivona, Hollink, Iris H.I. M., Bogunovic, Dusan
Published in Cell (19.08.2021)
Published in Cell (19.08.2021)
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Journal Article
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function
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
Published in Immunity (Cambridge, Mass.) (15.09.2020)
Published in Immunity (Cambridge, Mass.) (15.09.2020)
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Journal Article
Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells
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
Published in Nature (London) (09.03.2023)
Published in Nature (London) (09.03.2023)
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Journal Article
IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency
Gruber, Conor, Lee, Angelica, Buta, Sofija, Khattri, Saakshi, Gottlieb, Alice B., Frost, Jacqueline M., Bowcock, Anne M., Ho, Hsi-en, Bogunovic, Dusan
Published in Journal of clinical immunology (01.01.2024)
Published in Journal of clinical immunology (01.01.2024)
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Journal Article
Selective Ig[A.sub.2] deficiency in a patient with small intestinal Crohn's disease
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
Published in The Journal of clinical investigation (15.06.2023)
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Published in The Journal of clinical investigation (15.06.2023)
Journal Article
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis
Horesh, Michael E, Martin-Fernandez, Marta, Gruber, Conor, Buta, Sofija, Le Voyer, Tom, Puzenat, Eve, Lesmana, Harry, Wu, Yiming, Richardson, Ashley, Stein, David, Hodeib, Stephanie, Youssef, Mariam, Kurowski, Jacob A, Feuille, Elizabeth, Pedroza, Luis A, Fuleihan, Ramsay L, Haseley, Alexandria, Hovnanian, Alain, Quartier, Pierre, Rosain, Jérémie, Davis, Georgina, Mullan, Daniel, Stewart, O'Jay, Patel, Roosheel, Lee, Angelica E, Rubinstein, Rebecca, Ewald, Leyla, Maheshwari, Nikhil, Rahming, Virginia, Chinn, Ivan K, Lupski, James R, Orange, Jordan S, Sancho-Shimizu, Vanessa, Casanova, Jean-Laurent, Abul-Husn, Noura S, Itan, Yuval, Milner, Joshua D, Bustamante, Jacinta, Bogunovic, Dusan
Published in The Journal of experimental medicine (03.06.2024)
Published in The Journal of experimental medicine (03.06.2024)
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Journal Article
Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions
Martin-Fernandez, Marta, Bravo García-Morato, María, Gruber, Conor, Murias Loza, Sara, Malik, Muhammad Nasir Hayat, Alsohime, Fahad, Alakeel, Abdullah, Valdez, Rita, Buta, Sofija, Buda, Guadalupe, Marti, Marcelo A., Larralde, Margarita, Boisson, Bertrand, Feito Rodriguez, Marta, Qiu, Xueer, Chrabieh, Maya, Al Ayed, Mohammed, Al Muhsen, Saleh, 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
Published in Cell reports (Cambridge) (12.05.2020)
Published in Cell reports (Cambridge) (12.05.2020)
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