Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus
Kim, Hanna, Sanchez, Gina A. Montealegre, Goldbach-Mansky, Raphaela
Published in Journal of Molecular Medicine (01.10.2016)
Published in Journal of Molecular Medicine (01.10.2016)
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Book Review
Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients
Kim, Hanna, Brooks, Kristina M, Tang, Cheng Cai, Wakim, Paul, Blake, Mary, Brooks, Stephen R, Montealegre Sanchez, Gina A, de Jesus, Adriana A, Huang, Yan, Tsai, Wanxia Li, Gadina, Massimo, Prakash, Apurva, Janes, Jonathan Marcus, Zhang, Xin, Macias, William L, Kumar, Parag, Goldbach-Mansky, Raphaela
Published in Clinical pharmacology and therapeutics (01.08.2018)
Published in Clinical pharmacology and therapeutics (01.08.2018)
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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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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
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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A case of proteasome-associated auto-inflammatory syndrome with compound heterozygous mutations
McDermott, Amelia, MA, Jesus, Adriana Almeida, MD, PhD, Liu, Yin, PhD, Kim, Peter, MD, Jacks, Jennifer, MD, Montealegre Sanchez, Gina A., MD, MPH, Chen, Yongqing, MD, PhD, Kannan, Aarthi, BA, Schnebelen, Alicia, MD, Emanuel, Peter D., MD, Shalin, Sara, MD, Hiatt, Kim, MD, Goldbach-Mansky, Raphaela, MD, Gao, Ling, MD, PhD
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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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 (23.04.2024)
Published in Annals of the rheumatic diseases (23.04.2024)
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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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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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Rash, Fever, and Pulmonary Hypertension in a 6‐Year‐Old Female
Buchbinder, David, Montealegre Sanchez, Gina A., Goldbach‐Mansky, Raphaela, Brunner, Hermine, Shulman, Andrew I.
Published in Arthritis care & research (01.05.2018)
Published in Arthritis care & research (01.05.2018)
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Journal Article
Conference Proceeding
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
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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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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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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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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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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