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1.

Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.

Peñafiel Vicuña, Ana Karen; Yamazaki Nakashimada, Marco; León Lara, Ximena; Mendieta Flores, Elizabeth; Nuñez Núñez, María Enriqueta; Lona-Reyes, Juan Carlos; Hernández Nieto, Leticia; Ramírez Vázquez, María Guadalupe; Barroso Santos, Joel; López Iñiguez, Álvaro; González, Yolanda; Torres, Martha; Lezana Fernández, José Luis; Román Montes, Carla M; Medina-Torres, Edgar Alejandro; González Serrano, Edith; Bustamante Ogando, Juan Carlos; Lugo Reyes, Saúl; Zavaleta Martínez, Oscar; Staines Boone, Aidé Tamara; Venegas Montoya, Edna; Aguilar Gómez, Nancy Evelyn; Soudeé, Camille; Jouanguy, Emmanuelle; Puel, Anne; Boisson-Dupuis, Stéphanie; Pedraza Sánchez, Sigifredo; Casanova, Jean-Laurent; Espinosa Rosales, Francisco; Espinosa Padilla, Sara; Bustamante, Jacinta; Blancas Galicia, Lizbeth.

J Clin Immunol ; 43(1): 123-135, 2023 01.

Artigo em Inglês | MEDLINE | ID: mdl-36044171

2.

COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico.

Castano-Jaramillo, Lina M; Yamazaki-Nakashimada, Marco Antonio; O'Farrill-Romanillos, Patricia M; Muzquiz Zermeño, David; Scheffler Mendoza, Selma C; Venegas Montoya, Edna; García Campos, Jorge Alberto; Sánchez-Sánchez, Luz María; Gámez González, Luisa B; Ramírez López, Jesús Moisés; Bustamante Ogando, Juan Carlos; Vásquez-Echeverri, Estefanía; Medina Torres, Edgar Alejandro; Lopez-Herrera, Gabriela; Blancas Galicia, Lizbeth; Berrón Ruiz, Laura; Staines-Boone, Aidé Tamara; Espinosa-Padilla, Sara Elva; Segura Mendez, Nora Hilda; Lugo Reyes, Saul O.

J Clin Immunol ; 41(7): 1463-1478, 2021 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-34114122

3.

Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).

Roos, Dirk; van Leeuwen, Karin; Hsu, Amy P; Priel, Debra Long; Begtrup, Amber; Brandon, Rhonda; Rawat, Amit; Vignesh, Pandiarajan; Madkaikar, Manesha; Stasia, Marie José; Bakri, Faris Ghalib; de Boer, Martin; Roesler, Joachim; Köker, Nezihe; Köker, M Yavuz; Jakobsen, Marianne; Bustamante, Jacinta; Garcia-Morato, Maria Bravo; Shephard, Juan Luis Valdivieso; Cagdas, Deniz; Tezcan, Ilhan; Sherkat, Roya; Mortaz, Esmaeil; Fayezi, Abbas; Shahrooei, Mohammad; Wolach, Baruch; Blancas-Galicia, Lizbeth; Kanegane, Hirokazu; Kawai, Toshinao; Condino-Neto, Antonio; Vihinen, Mauno; Zerbe, Christa S; Holland, Steven M; Malech, Harry L; Gallin, John I; Kuhns, Douglas B.

Blood Cells Mol Dis ; 92: 102596, 2021 12.

Artigo em Inglês | MEDLINE | ID: mdl-34547651

4.

Correction to: Disseminated Infectious Disease Caused by Histoplasma capsulatum in an Adult Patient as First Manifestation of Inherited IL-12Rß1 Deficiency.

Blancas-Galicia, Lizbeth.

J Clin Immunol ; 40(7): 1055, 2020 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-32754849

5.

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.

Blancas-Galicia, Lizbeth; Santos-Chávez, Eros; Deswarte, Caroline; Mignac, Quentin; Medina-Vera, Isabel; León-Lara, Ximena; Roynard, Manon; Scheffler-Mendoza, Selma C; Rioja-Valencia, Ricardo; Alvirde-Ayala, Alexandra; Lugo Reyes, Saul O; Staines-Boone, Tamara; García-Campos, Jorge; Saucedo-Ramírez, Omar J; Del-Río Navarro, Blanca E; Zamora-Chávez, Antonio; López-Larios, Arturo; García-Pavón-Osorio, Susana; Melgoza-Arcos, Eugenia; Canseco-Raymundo, María R; Mogica-Martínez, Dolores; Venancio-Hernández, Marco; Pacheco-Rosas, Daniel; Pedraza-Sánchez, Sigifredo; Guevara-Cruz, Martha; Saracho-Weber, Federico; Gámez-González, Berenise; Wakida-Kuzunoki, Guillermo; Morán-Mendoza, Ana R; Macías-Robles, Ana P; Ramírez-Rivera, Roselia; Vargas-Camaño, Eugenia; Zarate-Hernández, Carmen; Gómez-Tello, Héctor; Ramírez-Sánchez, Emmanuel; Ruíz-Hernández, Fredy; Ramos-López, Domingo; Acuña-Martínez, Héctor; García-Cruz, María L; Román-Jiménez, María G; González-Villarreal, Marina G; Álvarez-Cardona, Aristóteles; Llamas-Guillén, Beatriz A; Cuellar-Rodríguez, Jennifer; Olaya-Vargas, Alberto; Ramírez-Uribe, Nideshda; Boisson-Dupuis, Stéphanie; Casanova, Jean-Laurent; Espinosa-Rosales, Francisco J; Serafín-López, Jeanet.

J Clin Immunol ; 40(3): 475-493, 2020 04.

Artigo em Inglês | MEDLINE | ID: mdl-32040803

6.

Latin American consensus on the supportive management of patients with severe combined immunodeficiency.

Bustamante Ogando, Juan Carlos; Partida Gaytán, Armando; Aldave Becerra, Juan Carlos; Álvarez Cardona, Aristóteles; Bezrodnik, Liliana; Borzutzky, Arturo; Blancas Galicia, Lizbeth; Cabanillas, Diana; Condino-Neto, Antonio; De Colsa Ranero, Agustín; Espinosa Padilla, Sara; Fernandes, Juliana Folloni; García Campos, Jorge Alberto; Gómez Tello, Héctor; González Serrano, María Edith; Gutiérrez Hernández, Alonso; Hernández Bautista, Víctor Manuel; Ivankovich Escoto, Gabriele; King, Alejandra; Lessa Mazzucchelli, Juliana; Llamas Guillén, Beatriz Adriana; Lugo Reyes, Saul Oswaldo; Moreno Espinosa, Sarbelio; Oleastro, Matías; Otero Mendoza, Francisco; Poli Harlowe, María Cecilia; Porras, Oscar; Ramirez Uribe, Nideshda; Regairaz, Lorean; Rivas Larrauri, Francisco; Saracho Weber, Federico José; Grumach, Anete S; Staines Boone, Tamara; Tavares Costa-Carvalho, Beatriz; Yamazaki Nakashimada, Marco Antonio; Espinosa Rosales, Francisco Javier.

J Allergy Clin Immunol ; 144(4): 897-905, 2019 10.

Artigo em Inglês | MEDLINE | ID: mdl-31419546

7.

Severe Periodontitis in Adults with Chronic Granulomatous Disease.

Beltrán-Bustamante, Jorge; Ogando, Juan Carlos Bustamante; De la Teja Ángeles, Eduardo; Blancas Galicia, Lizbeth.

J Clin Immunol ; 43(4): 695-698, 2023 05.

Artigo em Inglês | MEDLINE | ID: mdl-36637600

8.

Duplication of Exons 8-9 in NCF2 Leading to Incomplete Clinical Penetrance in Chronic Granulomatous Disease.

Venancio Hernández, Marco Antonio; Sanchez Flores, Carlos; Jiménez Juárez, María; Blancas Galicia, Lizbeth.

J Clin Immunol ; 44(1): 14, 2023 12 22.

Artigo em Inglês | MEDLINE | ID: mdl-38129542

9.

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rß1 Deficiency.

Rosain, Jérémie; Oleaga-Quintas, Carmen; Deswarte, Caroline; Verdin, Hannah; Marot, Stéphane; Syridou, Garyfallia; Mansouri, Mahboubeh; Mahdaviani, S Alireza; Venegas-Montoya, Edna; Tsolia, Maria; Mesdaghi, Mehrnaz; Chernyshova, Liudmyla; Stepanovskiy, Yuriy; Parvaneh, Nima; Mansouri, Davood; Pedraza-Sánchez, Sigifredo; Bondarenko, Anastasia; Espinosa-Padilla, Sara E; Yamazaki-Nakashimada, Marco A; Nieto-Patlán, Alejandro; Kerner, Gaspard; Lambert, Nathalie; Jacques, Corinne; Corvilain, Emilie; Migaud, Mélanie; Grandin, Virginie; Herrera, María T; Jabot-Hanin, Fabienne; Boisson-Dupuis, Stéphanie; Picard, Capucine; Nitschke, Patrick; Puel, Anne; Tores, Frederic; Abel, Laurent; Blancas-Galicia, Lizbeth; De Baere, Elfride; Bole-Feysot, Christine; Casanova, Jean-Laurent; Bustamante, Jacinta.

J Clin Immunol ; 38(5): 617-627, 2018 07.

Artigo em Inglês | MEDLINE | ID: mdl-29995221

10.

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

Conti, Francesca; Lugo-Reyes, Saul Oswaldo; Blancas Galicia, Lizbeth; He, Jianxin; Aksu, Güzide; Borges de Oliveira, Edgar; Deswarte, Caroline; Hubeau, Marjorie; Karaca, Neslihan; de Suremain, Maylis; Guérin, Antoine; Baba, Laila Ait; Prando, Carolina; Guerrero, Gloria G; Emiroglu, Melike; Öz, Fatma Nur; Yamazaki Nakashimada, Marco Antonio; Gonzalez Serrano, Edith; Espinosa, Sara; Barlan, Isil; Pérez, Nestor; Regairaz, Lorena; Guidos Morales, Héctor Eduardo; Bezrodnik, Liliana; Di Giovanni, Daniela; Dbaibo, Ghassan; Ailal, Fatima; Galicchio, Miguel; Oleastro, Matias; Chemli, Jalel; Danielian, Silvia; Perez, Laura; Ortega, Maria Claudia; Soto Lavin, Susana; Hertecant, Joseph; Anal, Ozden; Kechout, Nadia; Al-Idrissi, Eman; ElGhazali, Gehad; Bondarenko, Anastasia; Chernyshova, Liudmyla; Ciznar, Peter; Herbigneaux, Rose-Marie; Diabate, Aminata; Ndaga, Stéphanie; Konte, Barik; Czarna, Ambre; Migaud, Mélanie; Pedraza-Sánchez, Sigifredo; Zaidi, Mussaret Bano.

J Allergy Clin Immunol ; 138(1): 241-248.e3, 2016 07.

Artigo em Inglês | MEDLINE | ID: mdl-26936803

11.

Disseminated Tuberculosis in a Patient with Autosomal Recessive p47^phox Chronic Granulomatous Disease.

León-Lara, Ximena; Campos-Murguía, Alejandro; León-Cabral, Pablo; Tello-Mercado, Andrea; Salgado-Nesme, Noel; de la Mora, Jesús Delgado; Dupuis, Stéphanie Boisson-; Bustamante, Jacinta; Blancas-Galicia, Lizbeth.

J Clin Immunol ; 41(6): 1417-1419, 2021 08.

Artigo em Inglês | MEDLINE | ID: mdl-34013431

12.

Disseminated Infectious Disease Caused by Histoplasma capsulatum in an Adult Patient as First Manifestation of Inherited IL-12Rß1 Deficiency.

León-Lara, Ximena; Hernández-Nieto, Leticia; Zamora, Claudia Vázquez; Rodríguez-D'Cid, Roberto; Gutiérrez, María Evelin Cortés; Espinosa-Padilla, Sara; Bustamante, Jacinta; Puel, Anne; Blancas-Galicia, Lizbeth.

J Clin Immunol ; 40(7): 1051-1054, 2020 10.

Artigo em Inglês | MEDLINE | ID: mdl-32710397

13.

Partial IFN-Î³R2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.

Moncada-Vélez, Marcela; Martinez-Barricarte, Rubén; Bogunovic, Dusan; Kong, Xiao-Fei; Blancas-Galicia, Lizbeth; Tirpan, Cengiz; Aksu, Guzide; Vincent, Quentin B; Boisson, Bertrand; Itan, Yuval; Ramírez-Alejo, Noé; Okada, Satoshi; Kreins, Alexandra Y; Bryant, Vanessa L; Franco, Jose Luis; Migaud, Mélanie; Espinosa-Padilla, Sara; Yamazaki-Nakashimada, Marco; Espinosa-Rosales, Francisco; Kutukculer, Necil; Abel, Laurent; Bustamante, Jacinta; Vogt, Guillaume; Casanova, Jean-Laurent; Boisson-Dupuis, Stéphanie.

Blood ; 122(14): 2390-401, 2013 Oct 03.

Artigo em Inglês | MEDLINE | ID: mdl-23963039

14.

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.

Pediatr Blood Cancer ; 62(12): 2101-7, 2015 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-26185101

15.

IL-12Rß1 deficiency: mutation update and description of the IL12RB1 variation database.

van de Vosse, Esther; Haverkamp, Margje H; Ramirez-Alejo, Noe; Martinez-Gallo, Mónica; Blancas-Galicia, Lizbeth; Metin, Ayse; Garty, Ben Zion; Sun-Tan, Çagman; Broides, Arnon; de Paus, Roelof A; Keskin, Özlem; Çagdas, Deniz; Tezcan, Ilhan; Lopez-Ruzafa, Encarna; Aróstegui, Juan I; Levy, Jacov; Espinosa-Rosales, Francisco J; Sanal, Özden; Santos-Argumedo, Leopoldo; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie; van Dissel, Jaap T; Bustamante, Jacinta.

Hum Mutat ; 34(10): 1329-39, 2013 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-23864330

16.

Macrophage Activation Syndrome Secondary to Histoplasmosis in an Adult Female Carrier of X-linked Chronic Granulomatous Disease with Extreme Lyonization.

León-Lara, Ximena; García-Pavón Osorio, Susana; Espinosa Padilla, Sara; Blancas-Galicia, Lizbeth.

Iran J Allergy Asthma Immunol ; 22(6): 609-612, 2023 Dec 28.

Artigo em Inglês | MEDLINE | ID: mdl-38477958

17.

Macrophage Activation Syndrome as a Complication of Chronic Granulomatous Disease: A Case Report.

Liquidano-Perez, Eduardo; Carmona Berrón, Mariana; Carrillo Nieto, Rosa Itzel; Corcuera Delgado, Celso Tomás; Blancas Galicia, Lizbeth; Scheffler Mendoza, Selma Cecilia.

Iran J Allergy Asthma Immunol ; 22(6): 600-603, 2023 Dec 28.

Artigo em Inglês | MEDLINE | ID: mdl-38477956

18.

[Bacillus Calmette-Guérin infection and chronic granulomatous disease due to new pathogenic variants in the NCF2 gene in the Mayan ethnic group. Report of two cases.] / Infección por bacilo de Calmette-Guérin y enfermedad granulomatosa crónica por nuevas variantes patogénicas del gen NCF2 en la etnia maya. Reporte de dos casos.

Peñafiel-Vicuña, Ana Karen; Coyata-Guzmán, Rogelio; González Reynoso, Anelena; Palma-Chan, Adolfo Gonzalo; Baeza-Bastarrachea, Ricardo; García-Ruelas, Sherel A; Costta-Michuy, Ángeles; Razo-Requena, Cielo; León-Lara, Ximena; Espinosa-Padilla, Sara; Espinosa-Rosales, Francisco; Bustamante, Jacinta; Blancas-Galicia, Lizbeth.

Rev Alerg Mex ; 69(4): 220-227, 2023 Apr 19.

Artigo em Espanhol | MEDLINE | ID: mdl-37218049

19.

Intravenous immunoglobulin treatment for macrophage activation syndrome complicating chronic granulomatous disease.

Álvarez-Cardona, Aristóteles; Rodríguez-Lozano, Ana Luisa; Blancas-Galicia, Lizbeth; Rivas-Larrauri, Francisco Eduardo; Yamazaki-Nakashimada, Marco A.

J Clin Immunol ; 32(2): 207-11, 2012 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-22119934

20.

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.

Science ; 376(6599): eabm6380, 2022 06 17.

Artigo em Inglês | MEDLINE | ID: mdl-35587511

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