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

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

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

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

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

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

Health related quality of life measure in systemic pediatric rheumatic diseases and its translation to different languages: an international collaboration

por Moorthy, Lakshmi Nandini, Roy, Elizabeth, Kurra, Vamsi, Peterson, Margaret GE, Hassett, Afton L, Lehman, Thomas JA, Scott, Christiaan, El-Ghoneimy, Dalia, Saad, Shereen, El Feky, Reem, Al-Mayouf, Sulaiman, Dolezalova, Pavla, Malcova, Hana, Herlin, Troels, Nielsen, Susan, Wulffraat, Nico, van Royen, Annet, Marks, Stephen D, Belot, Alexandre, Brunner, Jurgen, Huemer, Christian, Foeldvari, Ivan, Horneff, Gerd, Saurenman, Traudel, Schroeder, Silke, Pratsidou-Gertsi, Polyxeni, Trachana, Maria, Uziel, Yosef, Aggarwal, Amita, Constantin, Tamas, Cimaz, Rolando, Giani, Theresa, Cantarini, Luca, Falcini, Fernanda, Manzoni, Silvia Magni, Ravelli, Angelo, Rigante, Donato, Zulian, Fracnceso, Miyamae, Takako, Yokota, Shumpei, Sato, Juliana, Magalhaes, Claudia S, Len, Claudio A, Appenzeller, Simone, Knupp, Sheila Oliveira, Rodrigues, Marta Cristine, Sztajnbok, Flavio, de Almeida, Rozana Gasparello, de Jesus, Adriana Almeida, de Arruda Campos, Lucia Maria, Silva, Clovis, Lazar, Calin, Susic, Gordana, Avcin, Tadej, Cuttica, Ruben, Burgos-Vargas, Ruben, Faugier, Enrique, Anton, Jordi, Modesto, Consuelo, Vazquez, Liza, Barillas, Lilliana, Barinstein, Laura, Sterba, Gary, Maldonado, Irama, Ozen, Seza, Kasapcopur, Ozgur, Demirkaya, Erkan, Benseler, Susa
Publicado 2014

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

por Bastard, Paul, Rosen, Lindsey B., Zhang, Qian, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Zhang, Yu, Dorgham, Karim, Philippot, Quentin, Rosain, Jérémie, Béziat, Vivien, Manry, Jérémy, Shaw, Elana, Haljasmägi, Liis, Peterson, Pärt, Lorenzo, Lazaro, Bizien, Lucy, Trouillet-Assant, Sophie, Dobbs, Kerry, de Jesus, Adriana Almeida, Belot, Alexandre, Kallaste, Anne, Catherinot, Emilie, Tandjaoui-Lambiotte, Yacine, Le Pen, Jeremie, Kerner, Gaspard, Bigio, Benedetta, Seeleuthner, Yoann, Yang, Rui, Bolze, Alexandre, Spaan, András N., Delmonte, Ottavia M., Abers, Michael S., Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Piemonti, Lorenzo, Ciceri, Fabio, Bilguvar, Kaya, Lifton, Richard P., Vasse, Marc, Smadja, David M., Migaud, Mélanie, Hadjadj, Jérome, Terrier, Benjamin, Duffy, Darragh, Quintana-Murci, Lluis, van de Beek, Diederik, Roussel, Lucie, Vinh, Donald C., Tangye, Stuart G., Haerynck, Filomeen, Dalmau, David, Martinez-Picado, Javier, Brodin, Petter, Nussenzweig, Michel C., Boisson-Dupuis, Stéphanie, Rodríguez-Gallego, Carlos, Vogt, Guillaume, Mogensen, Trine H., Oler, Andrew J., Gu, Jingwen, Burbelo, Peter D., Cohen, Jeffrey I., Biondi, Andrea, Bettini, Laura Rachele, D'Angio, Mariella, Bonfanti, Paolo, Rossignol, Patrick, Mayaux, Julien, Rieux-Laucat, Frédéric, Husebye, Eystein S., Fusco, Francesca, Ursini, Matilde Valeria, Imberti, Luisa, Sottini, Alessandra, Paghera, Simone, Quiros-Roldan, Eugenia, Rossi, Camillo, Castagnoli, Riccardo, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Duval, Xavier, Ghosn, Jade, Tsang, John S., Goldbach-Mansky, Raphaela, Kisand, Kai, Lionakis, Michail S., Puel, Anne, Zhang, Shen-Ying, Holland, Steven M., Gorochov, Guy, Jouanguy, Emmanuelle, Rice, Charles M., Cobat, Aurélie, Notarangelo, Luigi D., Abel, Laurent, Su, Helen C., Casanova, Jean-Laurent
Publicado 2020