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Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4
de Jesus, Adriana A., Brehm, Anja, VanTries, Rachel, Pillet, Pascal, Parentelli, Anne-Sophie, Montealegre Sanchez, Gina A., Deng, Zuoming, Paut, Isabelle Koné, Goldbach-Mansky, Raphaela, Krüger, Elke
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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Journal Article
Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN
Mendonca, Leonardo O., Malle, Louise, Donovan, Frank X., Chandrasekharappa, Settara C., Montealegre Sanchez, Gina A., Garg, Megha, Tedgard, Ulf, Castells, Mariana, Saini, Shiv S., Dutta, Sourabh, Goldbach-Mansky, Raphaela, Suri, Deepti, Jesus, Adriana A.
Published in Journal of clinical immunology (01.07.2017)
Published in Journal of clinical immunology (01.07.2017)
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Journal Article
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies
Sanchez, Gina A. Montealegre, Reinhardt, Adam, Ramsey, Suzanne, Wittkowski, Helmut, Hashkes, Philip J., Berkun, Yackov, Schalm, Susanne, Murias, Sara, Dare, Jason A., Brown, Diane, Stone, Deborah L., Gao, Ling, Klausmeier, Thomas, Foell, Dirk, de Jesus, Adriana A., Chapelle, Dawn C., Kim, Hanna, Dill, Samantha, Colbert, Robert A., Failla, Laura, Kost, Bahar, O’Brien, Michelle, Reynolds, James C., Folio, Les R., Calvo, Katherine R., Paul, Scott M., Weir, Nargues, Brofferio, Alessandra, Soldatos, Ariane, Biancotto, Angelique, Cowen, Edward W., Digiovanna, John J., Gadina, Massimo, Lipton, Andrew J., Hadigan, Colleen, Holland, Steven M., Fontana, Joseph, Alawad, Ahmad S., Brown, Rebecca J., Rother, Kristina I., Heller, Theo, Brooks, Kristina M., Kumar, Parag, Brooks, Stephen R., Waldman, Meryl, Singh, Harsharan K., Nickeleit, Volker, Silk, Maria, Prakash, Apurva, Janes, Jonathan M., Ozen, Seza, Wakim, Paul G., Brogan, Paul A., Macias, William L., Goldbach-Mansky, Raphaela
Published in The Journal of clinical investigation (01.07.2018)
Published in The Journal of clinical investigation (01.07.2018)
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Journal Article
Development of a Validated Interferon Score Using NanoString Technology
Kim, Hanna, de Jesus, Adriana A, Brooks, Stephen R, Liu, Yin, Huang, Yan, VanTries, Rachel, Montealegre Sanchez, Gina A, Rotman, Yaron, Gadina, Massimo, Goldbach-Mansky, Raphaela
Published in Journal of interferon & cytokine research (01.04.2018)
Published in Journal of interferon & cytokine research (01.04.2018)
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Journal Article
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
Canna, Scott W, de Jesus, Adriana A, Gouni, Sushanth, Brooks, Stephen R, Marrero, Bernadette, Liu, Yin, DiMattia, Michael A, Zaal, Kristien J M, Sanchez, Gina A Montealegre, Kim, Hanna, Chapelle, Dawn, Plass, Nicole, Huang, Yan, Villarino, Alejandro V, Biancotto, Angelique, Fleisher, Thomas A, Duncan, Joseph A, O'Shea, John J, Benseler, Susanne, Grom, Alexei, Deng, Zuoming, Laxer, Ronald M, Goldbach-Mansky, Raphaela
Published in Nature genetics (01.10.2014)
Published in Nature genetics (01.10.2014)
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Journal Article
A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations
McDermott, Amelia, Jesus, Adriana Almeida, Liu, Yin, Kim, Peter, Jacks, Jennifer, Montealegre Sanchez, Gina A., Chen, Yongqing, Kannan, Aarthi, Schnebelen, Alicia, Emanuel, Peter D., Shalin, Sara, Hiatt, Kim, Goldbach-Mansky, Raphaela, Gao, Ling
Published in Journal of the American Academy of Dermatology (01.07.2013)
Published in Journal of the American Academy of Dermatology (01.07.2013)
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Journal Article
Disease flares with baricitinib dose reductions and development of flare criteria in patients with CANDLE/PRAAS
Cetin Gedik, Kader, Ortega-Villa, Ana M, Materne, Grace, Rastegar, Andre, Montealegre Sanchez, Gina A, Reinhardt, Adam, Brogan, Paul A, Berkun, Yackov, Murias, Sara, Robles, Maria, Schalm, Susanne, de Jesus, Adriana A, Goldbach-Mansky, Raphaela
Published in Annals of the rheumatic diseases (01.09.2024)
Published in Annals of the rheumatic diseases (01.09.2024)
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Journal Article
Reversal of Alopecia Areata Following Treatment With the JAK1/2 Inhibitor Baricitinib
Jabbari, Ali, Dai, Zhenpeng, Xing, Luzhou, Cerise, Jane E., Ramot, Yuval, Berkun, Yackov, Sanchez, Gina A. Montealegre, Goldbach-Mansky, Raphaela, Christiano, Angela M., Clynes, Raphael, Zlotogorski, Abraham
Published in EBioMedicine (01.04.2015)
Published in EBioMedicine (01.04.2015)
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Journal Article
Rilonacept maintains long-term inflammatory remission in patients with deficiency of the IL-1 receptor antagonist
Garg, Megha, de Jesus, Adriana A., Chapelle, Dawn, Dancey, Paul, Herzog, Ronit, Rivas-Chacon, Rafael, Muskardin, Theresa L. Wampler, Reed, Ann, Reynolds, James C., Goldbach-Mansky, Raphaela, Sanchez, Gina A. Montealegre
Published in JCI insight (17.08.2017)
Published in JCI insight (17.08.2017)
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Journal Article
Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19
Sacco, Keith, Castagnoli, Riccardo, Vakkilainen, Svetlana, Liu, Can, Delmonte, Ottavia M., Oguz, Cihan, Kaplan, Ian M., Alehashemi, Sara, Burbelo, Peter D., Bhuyan, Farzana, de Jesus, Adriana A., Dobbs, Kerry, Rosen, Lindsey B., Cheng, Aristine, Shaw, Elana, Vakkilainen, Mikko S., Pala, Francesca, Lack, Justin, Zhang, Yu, Fink, Danielle L., Oikonomou, Vasileios, Snow, Andrew L., Dalgard, Clifton L., Chen, Jinguo, Sellers, Brian A., Montealegre Sanchez, Gina A., Barron, Karyl, Rey-Jurado, Emma, Vial, Cecilia, Poli, Maria Cecilia, Licari, Amelia, Montagna, Daniela, Marseglia, Gian Luigi, Licciardi, Francesco, Ramenghi, Ugo, Discepolo, Valentina, Lo Vecchio, Andrea, Guarino, Alfredo, Eisenstein, Eli M., Imberti, Luisa, Sottini, Alessandra, Biondi, Andrea, Mató, Sayonara, Gerstbacher, Dana, Truong, Meng, Stack, Michael A., Magliocco, Mary, Bosticardo, Marita, Kawai, Tomoki, Danielson, Jeffrey J., Hulett, Tyler, Askenazi, Manor, Hu, Shaohui, Cohen, Jeffrey I., Su, Helen C., Kuhns, Douglas B., Lionakis, Michail S., Snyder, Thomas M., Holland, Steven M., Goldbach-Mansky, Raphaela, Tsang, John S., Notarangelo, Luigi D.
Published in Nature medicine (01.05.2022)
Published in Nature medicine (01.05.2022)
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Journal Article
Neurological manifestations of the Mendelian‐inherited autoinflammatory syndromes
SANCHEZ, GINA A MONTEALEGRE, HASHKES, PHILIP J
Published in Developmental medicine and child neurology (01.06.2009)
Published in Developmental medicine and child neurology (01.06.2009)
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Journal Article
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS
Cetin Gedik, Kader, Lamot, Lovro, Romano, Micol, Demirkaya, Erkan, Piskin, David, Torreggiani, Sofia, Adang, Laura A., Armangue, Thais, Barchus, Kathe, Cordova, Devon R., Crow, Yanick J., Dale, Russell C., Durrant, Karen L., Eleftheriou, Despina, Fazzi, Elisa M., Gattorno, Marco, Gavazzi, Francesco, Hanson, Eric P., Lee‐Kirsch, Min Ae, Montealegre Sanchez, Gina A., Neven, Bénédicte, Orcesi, Simona, Ozen, Seza, Poli, M. Cecilia, Schumacher, Elliot, Tonduti, Davide, Uss, Katsiaryna, Aletaha, Daniel, Feldman, Brian M., Vanderver, Adeline, Brogan, Paul A., Goldbach‐Mansky, Raphaela
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.05.2022)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.05.2022)
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Journal Article
TGFβ links EBV to multisystem inflammatory syndrome in children
Goetzke, Carl Christoph, Massoud, Mona, Frischbutter, Stefan, Guerra, Gabriela Maria, Ferreira-Gomes, Marta, Heinrich, Frederik, von Stuckrad, Anne Sae Lim, Wisniewski, Sebastian, Licha, Jan Robin, Bondareva, Marina, Ehlers, Lisa, Khaldi-Plassart, Samira, Javouhey, Etienne, Pons, Sylvie, Trouillet-Assant, Sophie, Ozsurekci, Yasemin, Zhang, Yu, Poli, Maria Cecilia, Discepolo, Valentina, Lo Vecchio, Andrea, Sahin, Bengü, Verboom, Murielle, Hallensleben, Michael, Heuhsen, Anja Isabelle, Astudillo, Camila, Espinosa, Yazmin, Vial Cox, Maria Cecilia, Dobbs, Kerry, Delmonte, Ottavia M., Montealegre Sanchez, Gina A., Magliocco, Mary, Barron, Karyl, Danielson, Jeffrey, Petrov, Lev, Unterwalder, Nadine, Sawitzki, Birgit, Matz, Mareen, Lehmann, Katrin, Gratopp, Alexander, von Bernuth, Horst, Burkhardt, Lisa-Marie, Wiese, Niklas, Peter, Lena, Schmueck-Henneresse, Michael, Amini, Leila, Maurer, Marcus, Roehmel, Jobst Fridolin, Gewurz, Benjamin E., Yonker, Lael M., Witkowski, Mario, Kruglov, Andrey, Mall, Marcus Alexander, Su, Helen C., Ozen, Seza, Radbruch, Andreas, Belot, Alexandre, Durek, Pawel, Kallinich, Tilmann, Mashreghi, Mir-Farzin
Published in Nature (London) (17.04.2025)
Published in Nature (London) (17.04.2025)
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Journal Article
Novel Majeed Syndrome–Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis
Bhuyan, Farzana, Jesus, Adriana A., Mitchell, Jacob, Leikina, Evgenia, VanTries, Rachel, Herzog, Ronit, Onel, Karen B., Oler, Andrew, Montealegre Sanchez, Gina A., Johnson, Kim A., Bichell, Lena, Marrero, Bernadette, De Castro, Luis Fernandez, Huang, Yan, Calvo, Katherine R., Collins, Michael T., Ganesan, Sundar, Chernomordik, Leonid V., Ferguson, Polly J., Goldbach‐Mansky, Raphaela
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.06.2021)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.06.2021)
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Journal Article
Deep immune profiling uncovers novel associations with clinical phenotypes of multisystem inflammatory syndrome in children (MIS-C)
Redmond, Christopher John, Kitakule, Moses M, Son, Aran, Sylvester, McKella, Sacco, Keith, Delmonte, Ottavia, Licciardi, Francesco, Castagnoli, Riccardo, Poli, M Cecilia, Espinoza, Yasmin, Astudillo, Camila, Weber, Sarah E, Montealegre Sanchez, Gina A, Barron, Karyl S, Magliocco, Mary, Dobbs, Kerry, Zhang, Yu, Matthews, Helen, Oguz, Cihan, Su, Helen C, Notarangelo, Luigi D, Frischmeyer-Guerrerio, Pamela, Schwartz, Daniella M
Published in Annals of the rheumatic diseases (01.03.2023)
Published in Annals of the rheumatic diseases (01.03.2023)
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Journal Article
Pediatric SARS-CoV-2 long term outcomes study (PECOS): cross sectional analysis at baseline
Montealegre Sanchez, Gina A., Arrigoni, Lauren E., Yonts, Alexandra B., Rubenstein, Kevin B., Bost, James E., Wolff, Max T., Barrix, Mallory C., Bandettini, W. Patricia, Boateng, Bema, Bulas, Dorothy I., Burklow, Thomas R., Carlyle, Kayla P., Chen, Marcus, Das, Sanchita, Dewar, Robin L., Dixon, Austin A., Edu, Maureen A., Falik, Rachel L., Geslak, Monika L., Gierdalski, Marcin, Harahsheh, Ashraf S., Herbert, Linda J., Highbarger, Jeroen, Huq, Saira R., Ko, Arthur, Koumbourlis, Anastassios C., Lacey, Stephanie R., Lipton, Andrew J., Monaghan, Maureen, Ndour, Anta S., Olivieri, Laura J., Pillai, Dinesh K., Rehm, Catherine A., Sable, Craig A., Sachdev, Vandana, Thurm, Audrey E., Truong, Uyen T., Turkbey, Evrim B., Vilain, Eric, Weyers, Shera, White, Jacob S., Williams, Abigail A., Zember, Jonathan, Liang, C. Jason, Delaney, Meghan, Batshaw, Mark L., Notarangelo, Luigi D., Wessel, David L., Barron, Karyl, DeBiasi, Roberta L.
Published in Pediatric research (01.08.2025)
Published in Pediatric research (01.08.2025)
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Journal Article
Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features
Schwartz, Daniella Muallem, Kitakule, Moses M, Dizon, Brian LP, Gutierrez-Huerta, Cristhian, Blackstone, Sarah A, Burma, Aarohan M, Son, Aran, Deuitch, Natalie, Rosenzweig, Sofia, Komarow, Hirsh, Stone, Deborah L, Jones, Anne, Nehrebecky, Michele, Hoffmann, Patrycja, Romeo, Tina, de Jesus, Adriana Almeida, Alehashemi, Sara, Garg, Megha, Torreggiani, Sofia, Montealegre Sanchez, Gina A, Honer, Katelin, Souto Adeva, Gema, Barron, Karyl S, Aksentijevich, Ivona, Ombrello, Amanda K, Goldbach-Mansky, Raphaela, Kastner, Daniel L, Milner, Joshua D, Frischmeyer-Guerrerio, Pamela
Published in Annals of the rheumatic diseases (01.06.2021)
Published in Annals of the rheumatic diseases (01.06.2021)
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Journal Article
The 2021 EULAR and ACR points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS
Gedik, Kader Cetin, Lamot, Lovro, Romano, Micol, Demirkaya, Erkan, Piskin, David, Torreggiani, Sofia, Adang, Laura A., Armangue, Thais, Barchus, Kathe, Cordova, Devon R., Crow, Yanick J., Dale, Russell C., Durrant, Karen L., Eleftheriou, Despina, Fazzi, Elisa M., Gattorno, Marco, Gavazzi, Francesco, Hanson, Eric P., Lee-Kirsch, Min Ae, Montealegre Sanchez, Gina A., Neven, Bénédicte, Orcesi, Simona, Ozen, Seza, Poli, M. Cecilia, Schumacher, Elliot, Tonduti, Davide, Uss, Katsiaryna, Aletaha, Daniel, Feldman, Brian M., Vanderver, Adeline, Brogan, Paul, Goldbach-Mansky, Raphaela
Published in Annals of the rheumatic diseases (01.05.2022)
Published in Annals of the rheumatic diseases (01.05.2022)
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Journal Article