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1
Autoinflammatory diseases: a Latin American multicenter study according to age and sex
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Artigo
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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

Revista Paulista de Pediatria, 2024, Vol.42 [Periódico revisado por pares]

Sociedade de Pediatria de São Paulo

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2
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
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Artigo
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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.

Journal of allergy and clinical immunology, 2023-04, Vol.151 (4), p.1081-1095 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation
Material Type:
Artigo
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Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation

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

Frontiers in pediatrics, 2023-03, Vol.11, p.1108207 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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4
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity
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Artigo
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COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity

Erra, Lorenzo ; Uriarte, Ignacio ; Colado, Ana ; Paolini, María Virginia ; Seminario, Gisela ; Fernández, Julieta Belén ; Tau, Lorena ; Bernatowiez, Juliana ; Moreira, Ileana ; Vishnopolska, Sebastián ; Rumbo, Martín ; Cassarino, Chiara ; Vijoditz, Gustavo ; López, Ana Laura ; Curciarello, Renata ; Rodríguez, Diego ; Rizzo, Gastón ; Ferreyra, Malena ; Ferreyra Mufarregue, Leila Romina ; Badano, María Noel ; Pérez Millán, María Inés ; Quiroga, María Florencia ; Baré, Patricia ; Ibañez, Itatí ; Pozner, Roberto ; Borge, Mercedes ; Docena, Guillermo ; Bezrodnik, Liliana ; Almejun, María Belén

Journal of clinical immunology, 2023-02, Vol.43 (2), p.271-285 [Periódico revisado por pares]

New York: Springer US

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5
Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad
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Artigo
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Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad

Archivos argentinos de pediatría, 2023-02, Vol.121 (1) [Periódico revisado por pares]

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6
Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity
Material Type:
Artigo
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Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity

Villa, Mariana ; Merhar, Claudia ; Nievas, Elma ; Palma, Alejandro ; Di Giovanni, Daniela ; Orellana, Julio C ; Skrie, Víctor C ; Gómez Raccio, Andrea ; Moreira, Ileana ; Seminario, Analía G ; Spossito, Lucia ; Anastasio, Verónica ; Cantisano, Claudio ; Díaz, Héctor ; Reigaraz, Lorena ; Galicchio, Miguel ; Liberatore, Diana ; Bezrodnik, Liliana ; Aquiri Gómez, Siglen ; Triguy, Jesica ; Peña, Sonia M ; Tolín, Ana L ; Uriarte, Ignacio L ; Castro Zorilla, Liliana ; Ruvinsky, Silvina ; Ensinck, Gabriela ; Cabanillas, Diana ; Tahuil, María N

Archivos argentinos de pediatría, 2023-02, Vol.121 (1), p.e202202885-e202202885 [Periódico revisado por pares]

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7
Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity
Material Type:
Artigo
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Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity

Villa, Mariana ; Merhar, Claudia ; Nievas, Elma ; Palma, Alejandro ; Di Giovanni, Daniela ; Orellana, Julio C ; Skrie, Víctor C ; Gómez Raccio, Andrea ; Moreira, Ileana ; Seminario, Analía G ; Spossito, Lucia ; Anastasio, Verónica ; Cantisano, Claudio ; Díaz, Héctor ; Reigaraz, Lorena ; Galicchio, Miguel ; Liberatore, Diana ; Bezrodnik, Liliana ; Aquiri Gómez, Siglen ; Triguy, Jesica ; Peña, Sonia M ; Tolín, Ana L ; Uriarte, Ignacio L ; Castro Zorilla, Liliana ; Ruvinsky, Silvina ; Ensinck, Gabriela ; Cabanillas, Diana ; Tahuil, María N

Archivos argentinos de pediatría, 2023-02, Vol.121 (1), p.e202202885 [Periódico revisado por pares]

Argentina

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8
Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation
Material Type:
Report
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Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation

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

Frontiers in pediatrics, 2023, Vol.11, p.1108207-1108207

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9
STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis
Material Type:
Artigo
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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.

Journal of allergy and clinical immunology, 2022-10, Vol.150 (4), p.931-946 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin
Material Type:
Artigo
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Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin

Spaan, András N ; Neehus, Anna-Lena ; Laplantine, Emmanuel ; Staels, Frederik ; Ogishi, Masato ; Seeleuthner, Yoann ; Rapaport, Franck ; Lacey, Keenan A ; Van Nieuwenhove, Erika ; Chrabieh, Maya ; Hum, David ; Migaud, Mélanie ; Izmiryan, Araksya ; Lorenzo, Lazaro ; Kochetkov, Tatiana ; Heesterbeek, Dani A C ; Bardoel, Bart W ; DuMont, Ashley L ; Dobbs, Kerry ; Chardonnet, Solenne ; Heissel, Søren ; Baslan, Timour ; Zhang, Peng ; Yang, Rui ; Bogunovic, Dusan ; Wunderink, Herman F ; Haas, Pieter-Jan A ; Molina, Henrik ; Van Buggenhout, Griet ; Lyonnet, Stanislas ; Notarangelo, Luigi D ; Seppänen, Mikko R J ; Weil, Robert ; Seminario, Gisela ; Gomez-Tello, Héctor ; Wouters, Carine ; Mesdaghi, Mehrnaz ; Shahrooei, Mohammad ; Bossuyt, Xavier ; Sag, Erdal ; Topaloglu, Rezan ; Ozen, Seza ; Leavis, Helen L ; van Eijk, Maarten M J ; Bezrodnik, Liliana ; Blancas Galicia, Lizbeth ; Hovnanian, Alain ; Nassif, Aude ; Bader-Meunier, Brigitte ; Neven, Bénédicte ; Meyts, Isabelle ; Schrijvers, Rik ; Puel, Anne ; Bustamante, Jacinta ; Aksentijevich, Ivona ; Kastner, Daniel L ; Torres, Victor J ; Humblet-Baron, Stéphanie ; Liston, Adrian ; Abel, Laurent ; Boisson, Bertrand ; Casanova, Jean-Laurent

Science (American Association for the Advancement of Science), 2022-06, Vol.376 (6599), p.eabm6380-eabm6380 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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