Search Results - "Nunez, Maria Enriqueta"

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Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations by Lugo-Reyes, Saul Oswaldo, Pastor, Nina, González-Serrano, Edith, Yamazaki-Nakashimada, Marco Antonio, Scheffler-Mendoza, Selma, Berron-Ruiz, Laura, Wakida, Guillermo, Nuñez-Nuñez, Maria Enriqueta, Macias-Robles, Ana Paola, Staines-Boone, Aide Tamara, Venegas-Montoya, Edna, Alaez-Verson, Carmen, Molina-Garay, Carolina, Flores-Lagunes, Luis Leonardo, Carrillo-Sanchez, Karol, Niemela, Julie, Rosenzweig, Sergio D., Gaytan, Paul, Yañez, Jorge A., Martinez-Duncker, Ivan, Notarangelo, Luigi D., Espinosa-Padilla, Sara, Cruz-Munoz, Mario Ernesto

Published in Journal of clinical immunology (01-08-2021)

“…Mutations in recombinase activating genes 1 and 2 ( RAG1/2 ) result in human severe combined immunodeficiency (SCID). The products of these genes are essential…”
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CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics by França, Tábata Takahashi, Barreiros, Lucila Akune, Salgado, Ranieri Coelho, Napoleão, Sarah Maria da Silva, Gomes, Lillian Nunes, Ferreira, Janáira Fernandes Severo, Prando, Carolina, Weber, Cristina Worm, Di Gesu, Regina Sumiko Watanabe, Montenegro, Cecilia, Aranda, Carolina Sanchez, Kuntze, Gisele, Staines-Boone, Aidé Tamara, Venegas-Montoya, Edna, Becerra, Juan Carlos Aldave, Bezrodnik, Liliana, Di Giovanni, Daniela, Moreira, Ileana, Seminario, Gisela Analia, Raccio, Andrea Cecilia Gómez, Dorna, Mayra de Barros, Rosário-Filho, Nelson Augusto, Chong-Neto, Herberto Jose, de Carvalho, Elisa, Grotta, Milena Baptistella, Orellana, Julio Cesar, Dominguez, Miguel Garcia, Porras, Oscar, Sasia, Laura, Salvucci, Karina, Garip, Emilio, Leite, Luiz Fernando Bacarini, Forte, Wilma Carvalho Neves, Pinto-Mariz, Fernanda, Goudouris, Ekaterini, Nuñez, María Enriqueta Nuñez, Schelotto, Magdalena, Ruiz, Laura Berrón, Liberatore, Diana Inés, Ochs, Hans D., Cabral-Marques, Otavio, Condino-Neto, Antonio

Published in Journal of clinical immunology (01-04-2022)

“…CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of…”
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Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia by Núñez-Núñez, María Enriqueta, Lona-Reyes, Juan Carlos, López-Barragán, Brenda, Cruz-Osorio, Rosa Margarita, Gutiérrez-Zepeda, Bricia Melissa, Quintero-Ramos, Antonio, Becerra-Loaiza, Denisse Stephania

Published in Frontiers in immunology (18-09-2023)

“…The most common causes of congenital neutropenia are mutations in the (Elastase, Neutrophil Expressed) gene (19p13.3), mostly in exon 5 and the distal portion…”
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Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico by 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

Published in Journal of clinical immunology (01-01-2023)

“…Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by impaired immunity against intracellular pathogens, such as…”
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