المؤلفون: de Jesus, Adriana A., Chen, Guibin, Yang, Dan, Brdicka, Tomas, Ruth, Natasha M., Bennin, David, Cebecauerova, Dita, Malcova, Hana, Freeman, Helen, Martin, Neil, Svojgr, Karel, Passo, Murray H., Bhuyan, Farzana, Alehashemi, Sara, Rastegar, Andre T., Uss, Katsiaryna, Kardava, Lela, Marrero, Bernadette, Duric, Iris, Omoyinmi, Ebun, Peldova, Petra, Lee, Chyi-Chia Richard, Kleiner, David E., Hadigan, Colleen M., Hewitt, Stephen M., Pittaluga, Stefania, Carmona-Rivera, Carmelo, Calvo, Katherine R., Shah, Nirali, Balascakova, Miroslava, Fink, Danielle L., Kotalova, Radana, Parackova, Zuzana, Peterkova, Lucie, Kuzilkova, Daniela, Campr, Vit, Sramkova, Lucie, Biancotto, Angelique, Brooks, Stephen R., Manes, Cameron, Meffre, Eric, Harper, Rebecca L., Kuehn, Hyesun, Kaplan, Mariana J., Brogan, Paul, Rosenzweig, Sergio D., Merchant, Melinda, Deng, Zuoming, Huttenlocher, Anna, Moir, Susan L., Kuhns, Douglas B., Boehm, Manfred, Skvarova Kramarzova, Karolina, Goldbach-Mansky, Raphaela^{Aff1, IDs4146702336941y_cor54}

المصدر: Nature Communications. 14(1)

المؤلفون: Lee, Younglang, Wessel, Alex W, Xu, Jiazhi, Reinke, Julia G, Lee, Eries, Kim, Somin M, Hsu, Amy P, Zilberman-Rudenko, Jevgenia, Cao, Sha, Enos, Clinton, Brooks, Stephen R, Deng, Zuoming, Lin, Bin, de Jesus, Adriana A, Hupalo, Daniel N, Piotto, Daniela GP, Terreri, Maria T, Dimitriades, Victoria R, Dalgard, Clifton L, Holland, Steven M, Goldbach-Mansky, Raphaela, Siegel, Richard M, Hanson, Eric P

المصدر: Journal of Clinical Investigation. 132(6)

مصطلحات موضوعية: Infectious Diseases, Genetics, Pediatric, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Alternative Splicing, Child, Hereditary Autoinflammatory Diseases, Humans, I-kappa B Kinase, Immunologic Deficiency Syndromes, Male, NF-kappa B, Phenotype, Genetic diseases, Immunology, Inflammation, Innate immunity, Signal transduction, Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3521h944

المؤلفون: Bradfield, Clinton J., Liang, Jonathan J.^{Aff1, Aff2}, Ernst, Orna, John, Sinu P., Sun, Jing, Ganesan, Sundar, de Jesus, Adriana A., Bryant, Clare E., Goldbach-Mansky, Raphaela, Fraser, Iain D. C.^{Aff1, IDs41418022011069_cor10}

المصدر: Cell Death & Differentiation: Official journal of the ADMC Associazione Differenziamento e Morte Cellulare. 30(2):589-604

المؤلفون: Oikonomou, Vasileios, Smith, Grace, Constantine, Gregory M, Schmitt, Monica M, Ferré, Elise M N, Alejo, Julie C, Riley, Deanna, Kumar, Dhaneshwar, Dos Santos Dias, Lucas, Pechacek, Joseph, Hadjiyannis, Yannis, Webb, Taura, Seifert, Bryce A, Ghosh, Rajarshi, Walkiewicz, Magdalena, Martin, Daniel, Besnard, Marine, Snarr, Brendan D, Deljookorani, Shiva, Lee, Chyi-Chia R, DiMaggio, Tom, Barber, Princess, Rosen, Lindsey B, Cheng, Aristine, Rastegar, Andre, de Jesus, Adriana A, Stoddard, Jennifer, Kuehn, Hye Sun, Break, Timothy J, Kong, Heidi H, Castelo-Soccio, Leslie, Colton, Ben, Warner, Blake M, Kleiner, David E, Quezado, Martha M, Davis, Jeremy L, Fennelly, Kevin P, Olivier, Kenneth N, Rosenzweig, Sergio D, Suffredini, Anthony F, Anderson, Mark S, Swidergall, Marc, Guillonneau, Carole, Notarangelo, Luigi D, Goldbach-Mansky, Raphaela, Neth, Olaf, Monserrat-Garcia, Maria Teresa, Valverde-Fernandez, Justo, Lucena, Jose Manuel, Gomez-Gila, Ana Lucia, Garcia Rojas, Angela, Seppänen, Mikko R J, Lohi, Jouko, Hero, Matti, Laakso, Saila, Klemetti, Paula, Lundberg, Vanja, Ekwall, Olov, 1968, Olbrich, Peter, Winer, Karen K, Afzali, Behdad, Moutsopoulos, Niki M, Holland, Steven M, Heller, Theo, Pittaluga, Stefania, Lionakis, Michail S

المصدر: The New England journal of medicine. 390(20):1873-1884

مصطلحات موضوعية: Pediatrics, Pediatrik, Immunology in the medical area, Immunologi inom det medicinska området, Polyendocrinopathies, Autoimmune, genetics, drug therapy, immunology, Interferon-gamma, metabolism, Humans, Animals, Nitriles, therapeutic use, Mice, Pyrazoles, pharmacology, Pyrimidines, Transcription Factors, AIRE Protein, Female, Male, Knockout, Adult, Chemokine CXCL9, Autoantibodies, blood, T-Lymphocytes, Janus Kinase Inhibitors

URL الوصول: https://gup.ub.gu.se/publication/338274

المؤلفون: Aluri, Jahnavi, Bach, Alicia, Kaviany, Saara, Chiquetto Paracatu, Luana, Kitcharoensakkul, Maleewan, Walkiewicz, Magdalena A, Putnam, Christopher D, Shinawi, Marwan, Saucier, Nermina, Rizzi, Elise M, Harmon, Michael T, Keppel, Molly P, Ritter, Michelle, Similuk, Morgan, Kulm, Elaine, Joyce, Michael, de Jesus, Adriana A, Goldbach-Mansky, Raphaela, Lee, Yi-Shan, Cella, Marina, Kendall, Peggy L, Dinauer, Mary C, Bednarski, Jeffrey J, Bemrich-Stolz, Christina, Canna, Scott W, Abraham, Shirley M, Demczko, Matthew M, Powell, Jonathan, Jones, Stacie M, Scurlock, Amy M, De Ravin, Suk See, Bleesing, Jack J, Connelly, James A, Rao, V Koneti, Schuettpelz, Laura G, Cooper, Megan A

المصدر: Blood. 137(18)

مصطلحات موضوعية: Stem Cell Research, Clinical Research, Genetics, Transplantation, Stem Cell Research - Nonembryonic - Human, Hematology, 2.1 Biological and endogenous factors, Aetiology, Underpinning research, 1.1 Normal biological development and functioning, Inflammatory and immune system, Good Health and Well Being, Adolescent, Adult, B-Lymphocytes, Bone Marrow Failure Disorders, Cell Differentiation, Child, Child, Preschool, Cytokines, Female, Follow-Up Studies, Gain of Function Mutation, Humans, Immunologic Deficiency Syndromes, Infant, Inflammation, Lymphocyte Activation, Male, Mosaicism, Pancytopenia, Pedigree, Prognosis, T-Lymphocytes, Toll-Like Receptor 8, Young Adult, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Paediatrics and Reproductive Medicine, Immunology

URL الوصول: https://escholarship.org/uc/item/8zm7z9p5

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المؤلفون: Meirelles, Carolina Marques, Ferreira, Rafael Malagutti, Suzuki, Hideo, Oliveira, Cibele Braga, Souza de Jesus, Adriana, Garcez, Aguinaldo Silva, Suzuki, Selly Sayuri

المصدر: In American Journal of Orthodontics & Dentofacial Orthopedics July 2023 164(1):67-77

المؤلفون: de Jesus, Adriana A, Hou, Yangfeng, Brooks, Stephen, Malle, Louise, Biancotto, Angelique, Huang, Yan, Calvo, Katherine R, Marrero, Bernadette, Moir, Susan, Oler, Andrew J, Deng, Zuoming, Montealegre Sanchez, Gina A, Ahmed, Amina, Allenspach, Eric, Arabshahi, Bita, Behrens, Edward, Benseler, Susanne, Bezrodnik, Liliana, Bout-Tabaku, Sharon, Brescia, AnneMarie C, Brown, Diane, Burnham, Jon M, Caldirola, Maria Soledad, Carrasco, Ruy, Chan, Alice Y, Cimaz, Rolando, Dancey, Paul, Dare, Jason, DeGuzman, Marietta, Dimitriades, Victoria, Ferguson, Ian, Ferguson, Polly, Finn, Laura, Gattorno, Marco, Grom, Alexei A, Hanson, Eric P, Hashkes, Philip J, Hedrich, Christian M, Herzog, Ronit, Horneff, Gerd, Jerath, Rita, Kessler, Elizabeth, Kim, Hanna, Kingsbury, Daniel J, Laxer, Ronald M, Lee, Pui Y, Lee-Kirsch, Min Ae, Lewandowski, Laura, Li, Suzanne, Lilleby, Vibke, Mammadova, Vafa, Moorthy, Lakshmi N, Nasrullayeva, Gulnara, O'Neil, Kathleen M, Onel, Karen, Ozen, Seza, Pan, Nancy, Pillet, Pascal, Piotto, Daniela Gp, Punaro, Marilynn G, Reiff, Andreas, Reinhardt, Adam, Rider, Lisa G, Rivas-Chacon, Rafael, Ronis, Tova, Rösen-Wolff, Angela, Roth, Johannes, Ruth, Natasha Mckerran, Rygg, Marite, Schmeling, Heinrike, Schulert, Grant, Scott, Christiaan, Seminario, Gisella, Shulman, Andrew, Sivaraman, Vidya, Son, Mary Beth, Stepanovskiy, Yuriy, Stringer, Elizabeth, Taber, Sara, Terreri, Maria Teresa, Tifft, Cynthia, Torgerson, Troy, Tosi, Laura, Van Royen-Kerkhof, Annet, Wampler Muskardin, Theresa, Canna, Scott W, Goldbach-Mansky, Raphaela

المصدر: Journal of Clinical Investigation. 130(4)

مصطلحات موضوعية: Genetics, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Autoimmune Diseases, Female, Humans, Interferon Type I, Interleukin-18, Macrophage Activation Syndrome, Male, Mutation, Panniculitis, Pulmonary Alveolar Proteinosis, Genetic diseases, Immunology, Inflammation, Innate immunity, Monogenic diseases, Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/49d2m8ws

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المؤلفون: Sacco, Keith, Castagnoli, Riccardo^{Aff1, Aff2}, Vakkilainen, Svetlana, Liu, Can^{Aff3, Aff4}, Delmonte, Ottavia M., Oguz, Cihan^{Aff5, Aff6}, 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^{Aff3, Aff5}, Zhang, Yu, Fink, Danielle L., Oikonomou, Vasileios, Snow, Andrew L., Dalgard, Clifton L.^{Aff12, Aff13}, Chen, Jinguo, Sellers, Brian A., Montealegre Sanchez, Gina A., Barron, Karyl, Rey-Jurado, Emma, Vial, Cecilia, Poli, Maria Cecilia^{Aff17, Aff18}, Licari, Amelia, Montagna, Daniela^{Aff2, Aff19}, 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.^{Aff3, Aff30}, Notarangelo, Luigi D.^{Aff1, IDs41591022017243_cor65}

المصدر: Nature Medicine. 28(5):1050-1062