Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation
Weinacht, Katja G., MD, PhD, Charbonnier, Louis-Marie, PhD, Alroqi, Fayhan, MD, Plant, Ashley, MD, Qiao, Qi, PhD, Wu, Hao, PhD, Ma, Clement, PhD, Torgerson, Troy R., MD, PhD, Rosenzweig, Sergio D., MD, PhD, Fleisher, Thomas A., MD, Notarangelo, Luigi D., MD, Hanson, Imelda C., MD, Forbes, Lisa R., MD, Chatila, Talal A., MD, MSc
Published in Journal of allergy and clinical immunology (01.05.2017)
Published in Journal of allergy and clinical immunology (01.05.2017)
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Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations
Forbes, Lisa R., Vogel, Tiphanie P., Cooper, Megan A., Castro-Wagner, Johana, Schussler, Edith, Weinacht, Katja G., Plant, Ashley S., Su, Helen C., Allenspach, Eric J., Slatter, Mary, Abinun, Mario, Lilic, Desa, Cunningham-Rundles, Charlotte, Eckstein, Olive, Olbrich, Peter, Guillerman, R. Paul, Patel, Niraj C., Demirdag, Yesim Y., Zerbe, Christa, Freeman, Alexandra F., Holland, Steven M., Szabolcs, Paul, Gennery, Andrew, Torgerson, Troy R., Milner, Joshua D., Leiding, Jennifer W.
Published in Journal of allergy and clinical immunology (01.11.2018)
Published in Journal of allergy and clinical immunology (01.11.2018)
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Insight into the pediatric and adult dichotomy of COVID‐19: Age‐related differences in the immune response to SARS‐CoV‐2 infection
Fialkowski, Allison, Gernez, Yael, Arya, Puneeta, Weinacht, Katja G., Kinane, T. Bernard, Yonker, Lael M.
Published in Pediatric pulmonology (01.10.2020)
Published in Pediatric pulmonology (01.10.2020)
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Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition
Gernez, Yael, de Jesus, Adriana A., Alsaleem, Hanouf, Macaubas, Claudia, Roy, Amitava, Lovell, Daniel, Jagadeesh, Karthik A., Alehashemi, Sara, Erdman, Laura, Grimley, Michael, Talarico, Susanna, Bacchetta, Rosa, Lewis, David B., Canna, Scott W., Laxer, Ron M., Mellins, Elizabeth D., Goldbach-Mansky, Raphaela, Weinacht, Katja G.
Published in Journal of allergy and clinical immunology (01.10.2019)
Published in Journal of allergy and clinical immunology (01.10.2019)
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Transcriptional and epigenetic characterization of a new in vitro platform to model the formation of human pharyngeal endoderm
Cipriano, Andrea, Colantoni, Alessio, Calicchio, Alessandro, Fiorentino, Jonathan, Gomes, Danielle, Moqri, Mahdi, Parker, Alexander, Rasouli, Sajede, Caldwell, Matthew, Briganti, Francesca, Roncarolo, Maria Grazia, Baldini, Antonio, Weinacht, Katja G, Tartaglia, Gian Gaetano, Sebastiano, Vittorio
Published in Genome Biology (08.08.2024)
Published in Genome Biology (08.08.2024)
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Failure of metabolic checkpoint control during late-stage granulopoiesis drives neutropenia in reticular dysgenesis
Wang, Wenqing, Arreola, Martin, Mathews, Thomas, DeVilbiss, Andrew, Zhao, Zhiyu, Martin-Sandoval, Misty, Mohammed, Abdulvasey, Benegiamo, Giorgia, Awani, Avni, Goeminne, Ludger, Dever, Daniel, Nakauchi, Yusuke, Porteus, Matthew H., Pavel-Dinu, Mara, Al-Herz, Waleed, Notarangelo, Luigi, Auwerx, Johan, Morrison, Sean J., Weinacht, Katja G.
Published in Blood (08.10.2024)
Published in Blood (08.10.2024)
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Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation
Narula, Mansi, Lakshmanan, Uma, Borna, Simon, Schulze, Janika J., Holmes, Tyson H., Harre, Nicholas, Kirkey, Matthew, Ramachandran, Akshaya, Tagi, Veronica Maria, Barzaghi, Federica, Grunebaum, Eyal, Upton, Julia E.M., Hong-Diep Kim, Vy, Wysocki, Christian, Dimitriades, Victoria R., Weinberg, Kenneth, Weinacht, Katja G., Gernez, Yael, Sathi, Bindu K., Schelotto, Magdalena, Johnson, Matthew, Olek, Sven, Sachsenmaier, Christoph, Roncarolo, Maria-Grazia, Bacchetta, Rosa
Published in Journal of allergy and clinical immunology (01.01.2023)
Published in Journal of allergy and clinical immunology (01.01.2023)
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Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition
Gernez, Yael, Narula, Mansi, Cepika, Alma-Martina, Valdes Camacho, Juanita, Hoyte, Elisabeth G, Mouradian, Kirsten, Glader, Bertil, Singh, Deepika, Sathi, Bindu, Rao, Latha, Tolin, Ana L, Weinberg, Kenneth I, Lewis, David B, Bacchetta, Rosa, Weinacht, Katja G
Published in Frontiers in immunology (29.01.2024)
Published in Frontiers in immunology (29.01.2024)
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Calm in the midst of cytokine storm: a collaborative approach to the diagnosis and treatment of hemophagocytic lymphohistiocytosis and macrophage activation syndrome
Halyabar, Olha, Chang, Margaret H, Schoettler, Michelle L, Schwartz, Marc A, Baris, Ezgi H, Benson, Leslie A, Biggs, Catherine M, Gorman, Mark, Lehmann, Leslie, Lo, Mindy S, Nigrovic, Peter A, Platt, Craig D, Priebe, Gregory P, Rowe, Jared, Sundel, Robert P, Surana, Neeraj K, Weinacht, Katja G, Mann, Alison, Yuen, Jenny Chan, Meleedy-Rey, Patricia, Starmer, Amy, Banerjee, Taruna, Dedeoglu, Fatma, Degar, Barbara A, Hazen, Melissa M, Henderson, Lauren A
Published in Pediatric Rheumatology (14.02.2019)
Published in Pediatric Rheumatology (14.02.2019)
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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias
Chen, Rui, PhD, Giliani, Silvia, PhD, Lanzi, Gaetana, PhD, Mias, George I., PhD, Lonardi, Silvia, BS, Dobbs, Kerry, BS, Manis, John, MD, Im, Hogune, PhD, Gallagher, Jennifer E., PhD, Phanstiel, Douglas H., PhD, Euskirchen, Ghia, PhD, Lacroute, Philippe, PhD, Bettinger, Keith, MS, Moratto, Daniele, PhD, Weinacht, Katja, MD, Montin, Davide, MD, Gallo, Eleonora, MD, Mangili, Giovanna, MD, Porta, Fulvio, MD, Notarangelo, Lucia D., MD, Pedretti, Stefania, MD, Al-Herz, Waleed, MD, Alfahdli, Wasmi, MD, Comeau, Anne Marie, PhD, Traister, Russell S., MD, PhD, Pai, Sung-Yun, MD, Carella, Graziella, PhD, Facchetti, Fabio, MD, Nadeau, Kari C., MD, PhD, Snyder, Michael, PhD, Notarangelo, Luigi D., MD
Published in Journal of allergy and clinical immunology (01.09.2013)
Published in Journal of allergy and clinical immunology (01.09.2013)
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Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia
Bosticardo, Marita, Pala, Francesca, Calzoni, Enrica, Delmonte, Ottavia M., Dobbs, Kerry, Gardner, Cameron L., Sacchetti, Nicolo', Kawai, Tomoki, Garabedian, Elizabeth K., Draper, Debbie, Bergerson, Jenna R.E., DeRavin, Suk See, Freeman, Alexandra F., Güngör, Tayfun, Hartog, Nicholas, Holland, Steven M., Kohn, Donald B., Malech, Harry L., Markert, Mary Louise, Weinacht, Katja G., Villa, Anna, Seet, Christopher S., Montel-Hagen, Amelie, Crooks, Gay M., Notarangelo, Luigi D.
Published in Blood advances (23.06.2020)
Published in Blood advances (23.06.2020)
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Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT
Marsh, Rebecca A., Leiding, Jennifer W., Logan, Brent R., Griffith, Linda M., Arnold, Danielle E., Haddad, Elie, Falcone, E. Liana, Yin, Ziyan, Patel, Kadam, Arbuckle, Erin, Bleesing, Jack J., Sullivan, Kathleen E., Heimall, Jennifer, Burroughs, Lauri M., Skoda-Smith, Suzanne, Chandrakasan, Shanmuganathan, Yu, Lolie C., Oshrine, Benjamin R., Cuvelier, Geoffrey D. E., Thakar, Monica S., Chen, Karin, Teira, Pierre, Shenoy, Shalini, Phelan, Rachel, Forbes, Lisa R., Chellapandian, Deepak, Dávila Saldaña, Blachy J., Shah, Ami J., Weinacht, Katja G., Joshi, Avni, Boulad, Farid, Quigg, Troy C., Dvorak, Christopher C., Grossman, Debi, Torgerson, Troy, Graham, Pamela, Prasad, Vinod, Knutsen, Alan, Chong, Hey, Miller, Holly, de la Morena, M. Teresa, DeSantes, Kenneth, Cowan, Morton J., Notarangelo, Luigi D., Kohn, Donald B., Stenger, Elizabeth, Pai, Sung-Yun, Routes, John M., Puck, Jennifer M., Kapoor, Neena, Pulsipher, Michael A., Malech, Harry L., Parikh, Suhag, Kang, Elizabeth M.
Published in Journal of clinical immunology (01.10.2019)
Published in Journal of clinical immunology (01.10.2019)
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Trans locus inhibitors limit concomitant polysaccharide synthesis in the human gut symbiont Bacteroides fragilis
Chatzidaki-Livanis, Maria, Weinacht, Katja G., Comstock, Laurie E., Gordon, Jeffrey I.
Published in Proceedings of the National Academy of Sciences - PNAS (29.06.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (29.06.2010)
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Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells
Felgentreff, Kerstin, Du, Likun, Weinacht, Katja G., Dobbs, Kerry, Bartish, Margarita, Giliani, Silvia, Schlaeger, Thorsten, DeVine, Alexander, Schambach, Axel, Woodbine, Lisa J., Davies, Graham, Baxi, Sachin N., van der Burg, Mirjam, Bleesing, Jack, Gennery, Andrew, Manis, John, Pan-Hammarström, Qiang, Notarangelo, Luigi D.
Published in Proceedings of the National Academy of Sciences - PNAS (17.06.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (17.06.2014)
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Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome
Bucciol, Giorgia, Nicholas, Sarah K., Calvo, Pier Luigi, Cant, Andrew, Edgar, J. David M., Español, Teresa, Ferrua, Francesca, Galicchio, Miguel, Gennery, Andrew R., Hadzic, Nedim, Hanson, I. Celine, Kusminsky, Gustavo, Lange, Andrzej, Lanternier, Fanny, Mahlaoui, Nizar, Moshous, Despina, Nademi, Zohreh, Neven, Benedicte, Oleastro, Matias, Porta, Fulvio, Quarello, Paola, Silva, Marcelo, Slatter, Mary A., Soncini, Elena, Stefanowicz, Marek, Tandoi, Francesco, Teisseyre, Mikołaj, Torgerson, Troy R., Veys, Paul, Weinacht, Katja G., Wolska-Kuśnierz, Beata, Pirenne, Jacques, de la Morena, M. Teresa, Meyts, Isabelle
Published in Journal of allergy and clinical immunology (01.05.2019)
Published in Journal of allergy and clinical immunology (01.05.2019)
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Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation
Biggs, Catherine M, Cordeiro-Santanach, Anna, Prykhozhij, Sergey V, Deveau, Adam P, Lin, Yi, Del Bel, Kate L, Orben, Felix, Ragotte, Robert J, Saferali, Aabida, Mostafavi, Sara, Dinh, Louie, Dai, Darlene, Weinacht, Katja G, Dobbs, Kerry, Ott de Bruin, Lisa, Sharma, Mehul, Tsai, Kevin, Priatel, John J, Schreiber, Richard A, Rozmus, Jacob, Hosking, Martin Ck, Shopsowitz, Kevin E, McKinnon, Margaret L, Vercauteren, Suzanne, Seear, Michael, Notarangelo, Luigi D, Lynn, Francis C, Berman, Jason N, Turvey, Stuart E
Published in JCI insight (22.12.2022)
Published in JCI insight (22.12.2022)
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Extensive surface diversity of a commensal microorganism by multiple DNA inversions
Comstock, Laurie E, Krinos, Corinna M, Coyne, Michael J, Weinacht, Katja G, Tzianabos, Arthur O, Kasper, Dennis L
Published in Nature (London) (29.11.2001)
Published in Nature (London) (29.11.2001)
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First reported case of Omenn syndrome in a patient with reticular dysgenesis
Henderson, Lauren A., MD, Frugoni, Francesco, PhD, Hopkins, Gregory, BS, Al-Herz, Waleed, MD, Weinacht, Katja, MD, Comeau, Anne Marie, PhD, Bonilla, Francisco A., MD, PhD, Notarangelo, Luigi D., MD, Pai, Sung-Yun, MD
Published in Journal of allergy and clinical immunology (01.04.2013)
Published in Journal of allergy and clinical immunology (01.04.2013)
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The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies
Weinacht, Katja G, Brauer, Patrick M, Felgentreff, Kerstin, Devine, Alex, Gennery, Andrew R, Giliani, Silvia, Al-Herz, Waleed, Schambach, Axel, Zúñiga-Pflücker, Juan Carlos, Notarangelo, Luigi D
Published in Current opinion in immunology (01.10.2012)
Published in Current opinion in immunology (01.10.2012)
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