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Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry
Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry
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Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry

de Oliveira-Junior, Edgar Borges ; Zurro, Nuria Bengala ; Prando, Carolina ; Cabral-Marques, Otavio ; Pereira, Paulo Vitor Soeiro ; Schimke, Lena-Friederick ; Klaver, Stefanie ; Buzolin, Marcia ; Blancas-Galicia, Lizbeth ; Santos-Argumedo, Leopoldo ; Pietropaolo-Cienfuegos, Dino Roberto ; Espinosa-Rosales, Francisco ; King, Alejandra ; Sorensen, Ricardo ; Porras, Oscar ; Roxo-Junior, Persio ; Forte, Wilma Carvalho Neves ; Orellana, Julio Cesar ; Lozano, Alejandro ; Galicchio, Miguel ; Regairaz, Lorena ; Grumach, Anete Sevciovic ; Costa-Carvalho, Beatriz Tavares ; Bustamante, Jacinta ; Bezrodnik, Liliana ; Oleastro, Matias ; Danielian, Silvia ; Condino-Neto, Antonio

Pediatric blood & cancer, 2015-12, Vol.62 (12), p.2101-2107 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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2
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
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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.

Journal of allergy and clinical immunology, 2021-02, Vol.147 (2), p.520-531 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
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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

Blood, 2016-06, Vol.127 (25), p.3154-3164 [Periódico revisado por pares]

United States: Elsevier Inc

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4
BCG vaccination in patients with severe combined immunodeficiency: Complications, risks, and vaccination policies
BCG vaccination in patients with severe combined immunodeficiency: Complications, risks, and vaccination policies
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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

Journal of allergy and clinical immunology, 2014-04, Vol.133 (4), p.1134-1141 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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5
Long term outcomes of 176 patients with X-linked hyper IgM syndrome treated with or without hematopoietic cell transplantation
Long term outcomes of 176 patients with X-linked hyper IgM syndrome treated with or without hematopoietic cell transplantation
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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

Journal of allergy and clinical immunology, 2017-04, Vol.139 (4), p.1282-1292 [Periódico revisado por pares]

United States: Elsevier Limited

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6
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries
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Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

de Beaucoudrey, Ludovic ; Samarina, Arina ; Bustamante, Jacinta ; Cobat, Aurélie ; Boisson-Dupuis, Stéphanie ; Feinberg, Jacqueline ; Al-Muhsen, Saleh ; Jannière, Lucile ; Rose, Yoann ; de Suremain, Maylis ; Filipe-Santos, Orchidée ; Chapgier, Ariane ; Picard, Capucine ; Dogu, Figen ; Ikinciogullari, Aydan ; Tanir, Gonul ; Al-Hajjar, Sami ; Frayha, Husn H ; AlSum, Zobaida ; Al-Ajaji, Sulaiman ; Alangari, Abdullah ; Al-Ghonaium, Abdulaziz ; Adimi, Parisa ; Mansouri, Davood ; Ben-Mustapha, Imen ; Yancoski, Judith ; Garty, Ben-Zion ; Rodriguez-Gallego, Carlos ; Caragol, Isabel ; Kumararatne, Dinakantha S ; Patel, Smita ; Doffinger, Rainer ; Jeppsson, Olle ; Reichenbach, Janine ; Nadal, David ; Boyko, Yaryna ; Pietrucha, Barbara ; Anderson, Suzanne ; Levin, Michael ; Schandené, Liliane ; Schepers, Kinda ; Efira, André ; Mascart, Françoise ; Matsuoka, Masao ; Siegrist, Claire-Anne ; Frecerova, Klara ; Blüetters-Sawatzki, Renate ; Freihorst, Joachim ; Baumann, Ulrich ; Richter, Darko ; Haerynck, Filomeen ; Novelli, Vas ; Lammas, David ; Vermylen, Christiane ; Tuerlinckx, David ; Haas, Walther H ; Fleckenstein, Bernhard ; Levy, Jacob ; Raj, Revathi ; Cohen, Aileen Cleary ; Lewis, David B ; Holland, Steven M ; Jiang, Liping ; Yang, Xiqiang ; Xie, Yuanyuan ; Lee, Pamela Pui Wah ; Chan, Koon Wing ; Chen, Tong-Xin ; Castro, Gabriela ; Natera, Ivelisse ; Codoceo, Ana ; King, Alejandra ; Bezrodnik, Liliana ; Gaillard, Maria Isabel ; da Silva Duarte, Alberto Jose ; Aldana, Ruth ; Espinosa-Rosales, Francisco Javier ; Bousfiha, Ahmed Aziz ; Baghdadi, Jamila El ; Aksu, Guzide ; Keser, Melike ; Somer, Ayper ; Hatipoglu, Nevin ; Aydogmus, Çigdem ; Asilsoy, Suna ; Camcioglu, Yildiz ; Gülle, Saniye ; Ozgur, Tuba T ; Ozen, Meteran ; Oleastro, Matias ; Bernasconi, Andrea ; Mamishi, Setareh ; Parvaneh, Nima ; Rosenzweig, Sergio ; Barbouche, Ridha ; Pedraza, Sigifredo ; Lau, Yu Lung ; Ehlayel, Mohammad S ; Fieschi, Claire ; Casanova, Jean-Laurent

Medicine (Baltimore), 2010-11, Vol.89 (6), p.381-402 [Periódico revisado por pares]

United States

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7
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases
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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

Journal of allergy and clinical immunology, 2016-07, Vol.138 (1), p.241-248.e3 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations
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Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

Gutiérrez, Mariana ; Scaglia, Paula ; Keselman, Ana ; Martucci, Lucía ; Karabatas, Liliana ; Domené, Sabina ; Martin, Ayelen ; Pennisi, Patricia ; Blanco, Miguel ; Sanguineti, Nora ; Bezrodnik, Liliana ; Di Giovanni, Daniela ; Caldirola, María Soledad ; Azcoiti, María Esnaola ; Gaillard, María Isabel ; Denson, Lee A. ; Zhang, Kejian ; Husami, Ammar ; Yayah Jones, Nana-Hawa ; Hwa, Vivian ; Revale, Santiago ; Vázquez, Martín ; Jasper, Héctor ; Kumar, Ashish ; Domené, Horacio

Molecular and cellular endocrinology, 2018-09, Vol.473, p.166-177 [Periódico revisado por pares]

Ireland: Elsevier B.V

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9
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes
First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes
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First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

Cabral-Marques, Otavio ; Klaver, Stefanie ; Schimke, Lena F ; Ascendino, Évelyn H ; Khan, Taj Ali ; Pereira, Paulo Vítor Soeiro ; Falcai, Angela ; Vargas-Hernández, Alexander ; Santos-Argumedo, Leopoldo ; Bezrodnik, Liliana ; Moreira, Ileana ; Seminario, Gisela ; Di Giovanni, Daniela ; Raccio, Andrea Gómez ; Porras, Oscar ; Weber, Cristina Worm ; Ferreira, Janaíra Fernandes ; Tavares, Fabiola Scancetti ; de Carvalho, Elisa ; Valente, Claudia França Cavalcante ; Kuntze, Gisele ; Galicchio, Miguel ; King, Alejandra ; Rosário-Filho, Nelson Augusto ; Grota, Milena Baptistella ; dos Santos Vilela, Maria Marluce ; Di Gesu, Regina Sumiko Watanabe ; Lima, Simone ; de Souza Moura, Leiva ; Talesnik, Eduardo ; Mansour, Eli ; Roxo-Junior, Pérsio ; Aldave, Juan Carlos ; Goudouris, Ekaterine ; Pinto-Mariz, Fernanda ; Berrón-Ruiz, Laura ; Staines-Boone, Tamara ; Calderón, Wilmer O. Córdova ; del Carmen Zarate-Hernández, María ; Grumach, Anete S. ; Sorensen, Ricardo ; Durandy, Anne ; Torgerson, Troy R. ; Carvalho, Beatriz Tavares Costa ; Espinosa-Rosales, Francisco ; Ochs, Hans D. ; Condino-Neto, Antonio

Journal of clinical immunology, 2014-02, Vol.34 (2), p.146-156 [Periódico revisado por pares]

Boston: Springer US

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10
Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome
Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome
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Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome

Patel, Kiran, MD ; Akhter, Javeed, MD ; Kobrynski, Lisa, MD, MPH ; Gathman, Benjamin, MA ; Davis, Onika, BS ; Sullivan, Kathleen E., MD, PhD

The Journal of pediatrics, 2012-11, Vol.161 (5), p.950-953.e1 [Periódico revisado por pares]

Maryland Heights, MO: Elsevier Inc

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