Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-γ

Cabral-Marques, Otavio, PhD ; Ramos, Rodrigo Nalio, PhD ; Schimke, Lena F., MD ; Khan, Taj Ali, PhD ; Amaral, Eduardo Pinheiro, PhD ; Barbosa Bomfim, Caio César, MSc ; Junior, Osvaldo Reis, MSc ; França, Tabata Takahashi, MSc ; Arslanian, Christina, BSc ; Carola Correia Lima, Joanna Darck, MSc ; Weber, Cristina Worm, MD ; Ferreira, Janaíra Fernandes, MD ; Tavares, Fabiola Scancetti, MD ; Sun, Jing, MD ; D'Imperio Lima, Maria Regina, PhD ; Seelaender, Marília, PhD ; Garcia Calich, Vera Lucia, PhD ; Marzagão Barbuto, José Alexandre, MD, PhD ; Costa-Carvalho, Beatriz Tavares, MD, PhD ; Riemekasten, Gabriela, MD ; Seminario, Gisela, MD ; Bezrodnik, Liliana, MD ; Notarangelo, Luigi, MD ; Torgerson, Troy R., MD, PhD ; Ochs, Hans D., MD ; Condino-Neto, Antonio, MD, PhD

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Autoinflammatory diseases: a Latin American multicenter study according to age and sex

Piotto, Daniela Gerent Petry ; Kozu, Katia ; Aikawa, Nádia Emi ; Carneiro, Pedro Lopes ; Katsicas, María Martha ; Oliveira, Sheila Knupp Feitosa de ; Fernandes, Taciana de Albuquerque Pedrosa ; Magalhães, Claudia Saad ; Cunha, Ana Luiza Garcia ; Bica, Blanca Elena Rios Gomes ; Rabelo Júnior, Carlos Nobre ; Battagliotti, Cristina ; Matos, Erica Naomi Naka ; Santos, Flavia Patrícia Sena Teixeira ; Sztajnbok, Flavio Roberto ; Bezrodnik, Liliana ; Bandeira, Marcia ; Rodrigues, Marta Cristine Felix ; Munittis, Pablo García ; Appenzeller, Simone ; Robazzi, Teresa Cristina Martins ; Clemente, Gleice ; Silva, Clovis Artur ; Terreri, Maria Teresa

Sociedade de Pediatria de São Paulo

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Severe disease and greater impairment of NF-κB activation in IκBa point mutants versus truncation mutants in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

Petersheim, Daniel, MD ; Massaad, Michel J., PhD ; Lee, Saetbyul, PhD ; Scarselli, Alessia, MD ; Cancrini, Caterina, MD ; Moriya, Kunihiko, MD, PhD ; Sasahara, Yoji, MD, PhD ; Lankester, Arjan C., MD, PhD ; Dorsey, Morna, MD ; Di Giovanni, Daniela, MD ; Bezrodnik, Liliana, MD ; Ohnishi, Hidenori, MD, PhD ; Nishikomori, Ryuta, MD ; Tanita, Kay, MD ; Kanegane, Hirokazu, MD, PhD ; Morio, Tomohiro, MD ; Gelfand, Erwin W., MD ; Jain, Ashish, MD ; Secord, Elizabeth, MD, PhD ; Picard, Capucine, MD, PhD ; Casanova, Jean-Laurent, MD, PhD ; Albert, Michael H., MD ; Torgerson, Troy R., MD, PhD ; Geha, Raif S., MD

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Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Meyts, Isabelle ; Bucciol, Giorgia ; Quinti, Isabella ; Neven, Bénédicte ; Fischer, Alain ; Seoane, Elena ; Lopez-Granados, Eduardo ; Gianelli, Carla ; Robles-Marhuenda, Angel ; Jeandel, Pierre-Yves ; Paillard, Catherine ; Sankaran, Vijay G. ; Demirdag, Yesim Yilmaz ; Lougaris, Vassilios ; Aiuti, Alessandro ; Plebani, Alessandro ; Milito, Cinzia ; Dalm, Virgil ASH ; Guevara-Hoyer, Kissy ; Sánchez-Ramón, Silvia ; Bezrodnik, Liliana ; Barzaghi, Federica ; Gonzalez-Granado, Luis Ignacio ; Hayman, Grant R. ; Uzel, Gulbu ; Mendonça, Leonardo Oliveira ; Agostini, Carlo ; Spadaro, Giuseppe ; Badolato, Raffaele ; Soresina, Annarosa ; Vermeulen, François ; Bosteels, Cedric ; Lambrecht, Bart N. ; Keller, Michael ; Mustillo, Peter J. ; Abraham, Roshini S. ; Gupta, Sudhir ; Ozen, Ahmet ; Karakoc-Aydiner, Elif ; Baris, Safa ; Freeman, Alexandra F. ; Yamazaki-Nakashimada, Marco ; Scheffler-Mendoza, Selma ; Espinosa-Padilla, Sara ; Gennery, Andrew R. ; Jolles, Stephen ; Espinosa, Yazmin ; Poli, M. Cecilia ; Fieschi, Claire ; Hauck, Fabian ; Cunningham-Rundles, Charlotte ; Mahlaoui, Nizar ; Warnatz, Klaus ; Sullivan, Kathleen E. ; Tangye, Stuart G.

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Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Toubiana, Julie ; Okada, Satoshi ; Hiller, Julia ; Oleastro, Matias ; Lagos Gomez, Macarena ; Aldave Becerra, Juan Carlos ; Ouachée-Chardin, Marie ; Fouyssac, Fanny ; Girisha, Katta Mohan ; Etzioni, Amos ; Van Montfrans, Joris ; Camcioglu, Yildiz ; Kerns, Leigh Ann ; Belohradsky, Bernd ; Blanche, Stéphane ; Bousfiha, Aziz ; Rodriguez-Gallego, Carlos ; Meyts, Isabelle ; Kisand, Kai ; Reichenbach, Janine ; Renner, Ellen D. ; Rosenzweig, Sergio ; Grimbacher, Bodo ; van de Veerdonk, Frank L. ; Traidl-Hoffmann, Claudia ; Picard, Capucine ; Marodi, Laszlo ; Morio, Tomohiro ; Kobayashi, Masao ; Lilic, Desa ; Milner, Joshua D. ; Holland, Steven ; Casanova, Jean-Laurent ; Puel, Anne

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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Leiding, Jennifer W. ; Vogel, Tiphanie P. ; Smith, Madison R. ; Carisey, Alexandre ; Vargas-Hernández, Alexander ; Silva-Carmona, Manuel ; Neven, Bénédicte ; Ronan Leahy, Timothy ; Taskinen, Mervi ; Kostyuchenko, Larysa ; Scherbina, Anna ; Bauer, Cindy S. ; Giovannini-Chami, Lisa ; Romberg, Neil ; Prince, Benjamin T. ; Bohnsack, John ; Pachlopnik Schmid, Jana ; Bahna, Sami ; Brothers, Shannon ; Chan, Alice Y. ; Chandrakasan, Shanmuganathan ; Christiansen, Mette ; Cole, Theresa ; Desai, Mukesh M. ; Gottrand, Frédéric ; Grimbacher, Bodo ; Hoffman, Hal M. ; Guerrerio, Anthony L. ; Kainulainen, Leena ; Lawrence, Monica G. ; Martelius, Timi ; Neth, Olaf ; Lugo Reyes, Saúl Oswaldo ; Russell, Mark A. ; Schejter, Yael ; Skevofilax, Effie ; Suan, Daniel ; Velasco, Helena ; Walkovich, Kelly ; Aleshkevich, Svetlana ; Allende, Luis M. ; Atschekzei, Faranaz ; Aygunes, Utku ; Barlogis, Vincent ; Belko, John ; Bezrodnik, Liliana ; Biebl, Ariane ; Caldirola, Maria Soledad ; Castelle, Martin ; Cokugras, Haluk ; Cox, Fionnuala ; Dalgic, Buket ; ASH Dalm, Virgil ; Dujovny, Tal ; Eken, Ahmet ; Fabre, Alexandre ; Fischer, Alain ; Hannibal, Mark ; Huppert, Laura ; Karakoc-Aydiner, Elif ; Pac Kisaarslan, Ayşenur ; Kiykim, Ayca ; Klocperk, Adam ; Kuzmenko, Natalia ; Lianou, Dimitra ; Lorenz, Myriam Ricarda ; Manson, Ania ; Marega, Lia Furlaneto ; Nolan, David ; Norlin, Anna-Carin ; Oleastro, Matias ; Ozcan, Alper ; Picard, Capucine ; Polychronopoulou, Sophia ; Quesada, Juan Francisco ; Randall, Katrina L. ; Resin, Geraldine ; Rodina, Yulia ; Rohrlich, Pierre ; Sachs, Johnathan ; Sakovich, Inga ; Santarlas, Christopher ; Scheffler Mendoza, Selma C. ; Schwarz, Klaus ; Sediva, Anna ; Slatter, Mary ; Sleasman, John ; Suratannon, Narissara ; Tanita, Kay ; Travis, Stephen ; Tsinti, Maria ; Unal, Ekrem ; Urdinez, Luciano ; Vazquez-Gomez, Felisa ; Weiss, Mitchell J. ; Zhang, Yu ; Seppänen, Mikko R.J. ; Sogkas, Georgios ; Milner, Joshua D. ; Forbes Satter, Lisa R.

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STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis

Pelham, Simon J. ; Caldirola, Maria Soledad ; Avery, Danielle T. ; Mackie, Joseph ; Rao, Geetha ; Gothe, Florian ; Peters, Timothy J. ; Guerin, Antoine ; Neumann, David ; Vokurkova, Doris ; Hwa, Vivian ; Zhang, Wenming ; Lyu, Shu-Chen ; Chang, Iris ; Manohar, Monali ; Nadeau, Kari C. ; Gaillard, Maria Isabel ; Bezrodnik, Liliana ; Iotova, Violeta ; Zwirner, Norberto Walter ; Gutierrez, Mavel ; Al-Herz, Waleed ; Goodnow, Christopher C. ; Vargas-Hernández, Alexander ; Forbes Satter, Lisa R. ; Hambleton, Sophie ; Deenick, Elissa K. ; Ma, Cindy S. ; Tangye, Stuart G.

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BCG vaccination in patients with severe combined immunodeficiency: Complications, risks, and vaccination policies

Marciano, Beatriz E., MD ; Huang, Chiung-Yu, PhD ; Joshi, Gyan, PhD ; Rezaei, Nima, MD ; Carvalho, Beatriz Costa, MD ; Allwood, Zoe, MD ; Ikinciogullari, Aydan, MD ; Reda, Shereen M., MD ; Gennery, Andrew, MD ; Thon, Vojtech, MD ; Espinosa-Rosales, Francisco, MD ; Al-Herz, Waleed, MD ; Porras, Oscar, MD ; Shcherbina, Anna, MD ; Szaflarska, Anna, MD ; Kiliç, Şebnem, MD ; Franco, Jose L., MD, PhD ; Gómez Raccio, Andrea C., MD ; Roxo, Persio, MD ; Esteves, Isabel, MD ; Galal, Nermeen, MD ; Grumach, Anete Sevciovic, MD, PhD ; Al-Tamemi, Salem, MD ; Yildiran, Alisan, MD ; Orellana, Julio C., MD ; Yamada, Masafumi, MD ; Morio, Tomohiro, MD ; Liberatore, Diana, MD ; Ohtsuka, Yoshitoshi, MD ; Lau, Yu-Lung, MD ; Nishikomori, Ryuta, MD ; Torres-Lozano, Carlos, MD ; Mazzucchelli, Juliana T.L., MD ; Vilela, Maria M.S., MD ; Tavares, Fabiola S., MD ; Cunha, Luciana, MD ; Pinto, Jorge A., MD ; Espinosa-Padilla, Sara E., MD ; Hernandez-Nieto, Leticia, MD ; Elfeky, Reem A., MD ; Ariga, Tadashi, MD ; Toshio, Heike, MD ; Dogu, Figen, MD ; Cipe, Funda, MD ; Formankova, Renata, MD ; Nuñez-Nuñez, M. Enriqueta, MD ; Bezrodnik, Liliana, MD ; Marques, Jose Gonçalo, MD ; Pereira, María I., PhD ; Listello, Viviana, MD ; Slatter, Mary A., MD ; Nademi, Zohreh, MD ; Kowalczyk, Danuta, MD ; Fleisher, Thomas A., MD ; Davies, Graham, MD ; Neven, Bénédicte, MD ; Rosenzweig, Sergio D., MD, PhD

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Long term outcomes of 176 patients with X-linked hyper IgM syndrome treated with or without hematopoietic cell transplantation

de la Morena, M Teresa, MD ; Leonard, David, PhD ; Torgerson, Troy R., MD, PhD ; Cabral-Marques, Otavio, PhD ; Slatter, Mary, MD ; Aghamohammadi, Asghar, MD ; Chandra, Sharat, MD ; Murguia-Favela, Luis, MD ; Bonilla, Francisco, MD, PhD ; Kanariou, Maria, MD ; Damrongwatanasuk, Rongras, MD ; Kuo, Caroline Y., MD ; Dvorak, Christopher C., MD ; Meyts, Isabelle, MD ; Chen, Karin, MD ; Kobrynski, Lisa, MD, MPH ; Kapoor, Neena, MD ; Richter, Darko, MD ; DiGiovanni, Daniela, MD ; Dhalla, Fatima, MD ; Farmaki, Evangelia, MD ; Speckmann, Carsten, MD ; Espanol, Teresa, MD ; Shcherbina, Anna, MD ; Hanson, Celine, MD ; Litzman, Jiri, MD ; Routes, John, MD ; Wong, Melanie, MD, PhD ; Fuleihan, Ramsay, MD ; Seneviratne, Suranjith L., MD ; Small, Trudy N., MD ; Janda, Ales, MD ; Bezrodnik, Liliana, MD ; Seger, Reinhard, MD ; Raccio, Andrea Gomez, MD ; Edgar, J.David M., MD ; Chou, Janet, MD ; Abbott, Jordan K., MD ; van Montfrans, Joris, MD ; Gonzalez-Granado, Luis Ignacio, MD ; Bunin, Nancy, MD ; Kutukculer, Necil, MD ; Gray, Paul, MD ; Seminario, Gisela, MD ; Pasic, Srdjan, MD ; Aquino, Victor, MD ; Wysocki, Christian, MD, PhD ; Abolhassani, Hassan, MD ; Grunebaum, Eyal, MD ; Dorsey, Morna, MD ; Costa Carvalho, Beatriz Tavares, MD ; Condino-Neto, Antonio, MD ; Cunningham-Rundles, Charlotte, MD, PhD ; Knutsen, Alan P., MD ; Sleasman, John, MD ; Chapel, Helen, MD ; Ochs, Hans D., MD ; Filipovich, Alexandra, MD ; Cowan, Mort, MD ; Gennery, Andrew, MD ; Cant, Andrew, MD ; Notarangelo, Luigi D., MD ; Roifman, Chaim, MD

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Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases

Conti, Francesca, MD, PhD ; Lugo-Reyes, Saul Oswaldo, MD ; Blancas Galicia, Lizbeth, MD ; He, Jianxin, MD ; Aksu, Güzide, MD ; Borges de Oliveira, Edgar, PhD ; Deswarte, Caroline, MSc ; Hubeau, Marjorie, PhD ; Karaca, Neslihan, MD ; de Suremain, Maylis, AS ; Guérin, Antoine, MSc ; Baba, Laila Ait, PhD ; Prando, Carolina, MD, PhD ; Guerrero, Gloria G., PhD ; Emiroglu, Melike, MD ; Öz, Fatma Nur, MD ; Yamazaki Nakashimada, Marco Antonio, MD ; Gonzalez Serrano, Edith, MD ; Espinosa, Sara, MD, PhD ; Barlan, Isil, MD ; Pérez, Nestor, MD, PhD ; Regairaz, Lorena, MD ; Guidos Morales, Héctor Eduardo, MD ; Bezrodnik, Liliana, MD ; Di Giovanni, Daniela, MD ; Dbaibo, Ghassan, MD ; Ailal, Fatima, MD ; Galicchio, Miguel, MD ; Oleastro, Matias, MD ; Chemli, Jalel, MD ; Danielian, Silvia, PhD ; Perez, Laura, BSc ; Ortega, Maria Claudia, MD ; Soto Lavin, Susana, MD, PhD ; Hertecant, Joseph, MD ; Anal, Ozden, MD ; Kechout, Nadia, MD ; Al-Idrissi, Eman, MD ; ElGhazali, Gehad, MD, PhD ; Bondarenko, Anastasia, MD ; Chernyshova, Liudmyla, MD ; Ciznar, Peter, MD ; Herbigneaux, Rose-Marie, MD ; Diabate, Aminata, AS ; Ndaga, Stéphanie, AS ; Konte, Barik, AS ; Czarna, Ambre, AS ; Migaud, Mélanie, AS ; Pedraza-Sánchez, Sigifredo, PhD ; Zaidi, Mussaret Bano, MD, Msc ; Vogt, Guillaume, PhD ; Blanche, Stéphane, MD ; Benmustapha, Imen, MD ; Mansouri, Davood, MD ; Abel, Laurent, MD, PhD ; Boisson-Dupuis, Stéphanie, PhD ; Mahlaoui, Nizar, MD, MSc, MPH ; Bousfiha, Ahmed Aziz, MD ; Picard, Capucine, MD, PhD ; Barbouche, Ridha, MD, PhD ; Al-Muhsen, Saleh, MD ; Espinosa-Rosales, Francisco J., MD ; Kütükçüler, Necil, MD ; Condino-Neto, Antonio, MD, PhD ; Casanova, Jean-Laurent, MD, PhD ; Bustamante, Jacinta, MD, PhD

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