Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations

por Carneiro-Sampaio, Magda, de Jesus, Adriana Almeida, Bando, Silvia Yumi, Moreira-Filho, Carlos Alberto
Publicado 2022

Post-SARS-CoV-2 Vaccine Monitoring of Disease Flares in Autoinflammatory Diseases

por Alehashemi, Sara, van Gelderen, Evelien, Rastegar, Andre, de Jesus, Adriana A., Goldbach-Mansky, Raphaela
Publicado 2022

Pharmacogenetic Testing in a 70-Year-Old Woman with Polypharmacy and Multiple Comorbidities: A Case Report

por Jessop, Jayson P., Russell, Joshua, DeJesus, Adriana, Bardolia, Chandni, Hanna, Abeer, Turgeon, Jacques, Michaud, Veronique, Amin, Nishita S.
Publicado 2023

Three-Dimensional Evaluation of Dental Arches in Individuals with Syndromic Craniosynostosis

por Pinto, Rayane de Oliveira, Tonello, Cristiano, Peixoto, Adriano Porto, de Jesus, Adriana Souza, dos Santos-Pinto, Ary, Raveli, Dirceu Barnabé
Publicado 2023

Proceedings from the 2(nd) Next Gen Therapies for Systemic Juvenile Idiopathic Arthritis and Macrophage Activation Syndrome symposium held on October 3-4, 2019

por Canna, Scott W., Schulert, Grant S., de Jesus, Adriana, Pickering, Alex, Brunner, Hermine, Gadina, Massimo, Levine, Stewart, Goldbach-Mansky, Raphaela, Boutelle, Jonathan, Sinha, Rashmi, DeBenedetti, Fabrizio, Grom, Alexei
Publicado 2020

DDX58 and Classic Singleton-Merten Syndrome

por Ferreira, Carlos R., Crow, Yanick J., Gahl, William A., Gardner, Pamela J., Goldbach-Mansky, Raphaela, Hur, Sun, de Jesús, Adriana Almeida, Nehrebecky, Michele, Park, Ji Woo, Briggs, Tracy A.
Publicado 2018

Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation

por Caldirola, María Soledad, Seminario, Analía Gisela, Luna, Paula Carolina, Curciarello, Renata, Docena, Guillermo Horacio, Fernandez Escobar, Nicolás, Drelichman, Guillermo, Gattorno, Marco, de Jesus, Adriana A., Goldbach-Mansky, Raphaela, Gaillard, María Isabel, Bezrodnik, Liliana
Publicado 2023

A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI)

por Lin, Bin, Berard, Roberta, Al Rasheed, Abdulrahman, Aladba, Buthaina, Kranzusch, Philip J., Henderlight, Maggie, Grom, Alexi, Kahle, Dana, Torreggiani, Sofia, Aue, Alexander G., Mitchell, Jacob, de Jesus, Adriana A., Schulert, Grant S., Goldbach-Mansky, Raphaela
Publicado 2020

Case Report: Novel SAVI-Causing Variants in STING1 Expand the Clinical Disease Spectrum and Suggest a Refined Model of STING Activation

por Lin, Bin, Torreggiani, Sofia, Kahle, Dana, Rumsey, Dax G., Wright, Benjamin L., Montes-Cano, Marco A., Silveira, Laura Fernandez, Alehashemi, Sara, Mitchell, Jacob, Aue, Alexander G., Ji, Zheng, Jin, Tengchuan, de Jesus, Adriana A., Goldbach-Mansky, Raphaela
Publicado 2021

Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies

por Kim, Hanna, Gunter-Rahman, Fatima, McGrath, John A., Lee, Esther, de Jesus, Adriana A., Targoff, Ira N., Huang, Yan, O’Hanlon, Terrance P., Tsai, Wanxia L., Gadina, Massimo, Miller, Frederick W., Goldbach-Mansky, Raphaela, Rider, Lisa G.
Publicado 2020

A de novo nonsense mutation in the tyrosine kinase lyn in a patient with an early onset autoinflammatory phenotype

por De Jesus, Adriana Almeida, Montealegre, Gina, Liu, Yin, Marrero, Bernadette, Kuehn, Hyesun, Calvo, Katherine, Rosenzweig, Sergio, Fleisher, Thomas, Lee, Richard Chyi-Chia, Brundidge, April, Chapelle, Dawn, Huang, Yan, Brooks, Stephen, Moir, Susan, Meffre, Eric, Merchant, Melinda, Deng, Zuoming, Goldbach-Mansky, Raphaela
Publicado 2014

Establishing 20S Proteasome Genetic, Translational and Post-Translational Status from Precious Biological and Patient Samples with Top-Down MS

por Dafun, Angelique Sanchez, Živković, Dušan, Leon-Icaza, Stephen Adonai, Möller, Sophie, Froment, Carine, Bonnet, Delphine, de Jesus, Adriana Almeida, Alric, Laurent, Quaranta-Nicaise, Muriel, Ferrand, Audrey, Cougoule, Céline, Meunier, Etienne, Burlet-Schiltz, Odile, Ebstein, Frédéric, Goldbach-Mansky, Raphaela, Krüger, Elke, Bousquet, Marie-Pierre, Marcoux, Julien
Publicado 2023

Novel Majeed Syndrome–Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis

por Bhuyan, Farzana, de 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
Publicado 2021

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

por Canna, Scott W., de Jesus, Adriana Almeida, Gouni, Sushanth, Brooks, Stephen R., Marrero, Bernadette, Liu, Yin, DiMattia, Michael A., Zaal, Kristien J.M., Montealegre Sanchez, Gina A., 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
Publicado 2014

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience

por Suri, Deepti, Rawat, Amit, Jindal, Ankur Kumar, Vignesh, Pandiarajan, Gupta, Anju, Pilania, Rakesh Kumar, Joshi, Vibhu, Arora, Kanika, Kumrah, Rajni, Anjani, Gummadi, Aggarwal, Amita, Phadke, Shubha, Aboobacker, Fouzia N., George, Biju, Edison, Eunice Sindhuvi, Desai, Mukesh, Taur, Prasad, Gowri, Vijaya, Pandrowala, Ambreen Abdulwahab, Bhattad, Sagar, Kanakia, Swati, Gottorno, Marco, Ceccherini, Isabella, Almeida de Jesus, Adriana, Goldbach-Mansky, Raphaela, Hershfield, Michael S., Singh, Surjit
Publicado 2021

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype

por 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 G.P., Terreri, Maria T., Dimitriades, Victoria R., Dalgard, Clifton L., Holland, Steven M., Goldbach-Mansky, Raphaela, Siegel, Richard M., Hanson, Eric P.
Publicado 2022

Antiviral innate immunity is diminished in the upper respiratory tract of severe COVID-19 patients

por Ramos-Benitez, Marcos J., Strich, Jeffrey R., Alehashemi, Sara, Stein, Sydney, Rastegar, Andre, de Jesus, Adriana Almeida, Bhuyan, Farzana, Ramelli, Sabrina, Babyak, Ashley, Perez-Valencia, Luis, Vannella, Kevin M., Grubbs, Gabrielle, Khurana, Surender, Gross, Robin, Hadley, Kyra, Liang, Janie, Mazur, Steven, Postnikova, Elena, Warner, Seth, Holbrook, Michael R., Busch, Lindsay M., Warner, Blake, Applefeld, Willard, Warner, Sarah, Kadri, Sameer S, Davey, Richard T, Goldbach-Mansky, Raphaela, Chertow, Daniel S.
Publicado 2022

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

por Papendorf, Jonas Johannes, Ebstein, Frédéric, Alehashemi, Sara, Piotto, Daniela Gerent Petry, Kozlova, Anna, Terreri, Maria Teresa, Shcherbina, Anna, Rastegar, Andre, Rodrigues, Marta, Pereira, Renan, Park, Sophia, Lin, Bin, Uss, Kat, Möller, Sophie, da Silva Pina, Ana Flávia, Sztajnbok, Flavio, Torreggiani, Sofia, Niemela, Julie, Stoddard, Jennifer, Rosenzweig, Sergio D., Oler, Andrew J., McNinch, Colton, de Guzman, Marietta M., Fonseca, Adriana, Micheloni, Nicole, Fraga, Melissa Mariti, Perazzio, Sandro Félix, Goldbach-Mansky, Raphaela, de Jesus, Adriana A., Krüger, Elke
Publicado 2023

An immune-based biomarker signature is associated with mortality in COVID-19 patients

por Abers, Michael S., Delmonte, Ottavia M., Ricotta, Emily E., Fintzi, Jonathan, Fink, Danielle L., de Jesus, Adriana A. Almeida, Zarember, Kol A., Alehashemi, Sara, Oikonomou, Vasileios, Desai, Jigar V., Canna, Scott W., Shakoory, Bita, Dobbs, Kerry, Imberti, Luisa, Sottini, Alessandra, Quiros-Roldan, Eugenia, Castelli, Francesco, Rossi, Camillo, Brugnoni, Duilio, Biondi, Andrea, Bettini, Laura Rachele, D’Angio’, Mariella, Bonfanti, Paolo, Castagnoli, Riccardo, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Gliniewicz, Emily F., Shaw, Elana, Kahle, Dana E., Rastegar, Andre T., Stack, Michael, Myint-Hpu, Katherine, Levinson, Susan L., DiNubile, Mark J., Chertow, Daniel W., Burbelo, Peter D., Cohen, Jeffrey I., Calvo, Katherine R., Tsang, John S., Su, Helen C., Gallin, John I., Kuhns, Douglas B., Goldbach-Mansky, Raphaela, Lionakis, Michail S., Notarangelo, Luigi D.
Publicado 2021

In silico validation of the Autoinflammatory Disease Damage Index

por ter Haar, Nienke M, van Delft, Amber Laetitia Justine, Annink, Kim Valerie, van Stel, Henk, Al-Mayouf, Sulaiman M, Amaryan, Gayane, Anton, Jordi, Barron, Karyl S, Benseler, Susanne, Brogan, Paul A, Cantarini, Luca, Cattalini, Marco, Cochino, Alexis-Virgil, de Benedetti, Fabrizio, Dedeoglu, Fatma, de Jesus, Adriana Almeida, Demirkaya, Erkan, Dolezalova, Pavla, Durrant, Karen L, Fabio, Giovanna, Gallizzi, Romina, Goldbach-Mansky, Raphaela, Hachulla, Eric, Hentgen, Veronique, Herlin, Troels, Hofer, Michaël, Hoffman, Hal M, Insalaco, Antonella, Jansson, Annette F, Kallinich, Tilmann, Kone-Paut, Isabelle, Kozlova, Anna, Kuemmerle-Deschner, Jasmin Beate, Lachmann, Helen J, Laxer, Ronald M, Martini, Alberto, Nielsen, Susan, Nikishina, Irina, Ombrello, Amanda K, Özen, Seza, Papadopoulou-Alataki, Efimia, Quartier, Pierre, Rigante, Donato, Russo, Ricardo, Simon, Anna, Trachana, Maria, Uziel, Yosef, Ravelli, Angelo, Schulert, Grant, Gattorno, Marco, Frenkel, Joost
Publicado 2018