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1. Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease

Author

León-Lara, Ximena, Pérez-Blanco, Uriel, Yamazaki-Nakashimada, Marco A, Bustamante-Ogando, Juan Carlos, Aguilar-Gómez, Nancy, Cristerna-Tarrasa, Hernán, Staines-Boone, Aidé-Tamara, Saucedo-Ramírez, Omar J, Fregoso-Zuñiga, Eunice, Macías-Robles, Ana-Paola, Canseco-Raymundo, María R, Venancio-Hernández, Marco, Moctezuma-Trejo, Cristina, Gámez-González, Berenise, Zarate-Hernández, Carmen, Ramírez-Rivera, Roselia, Scheffler-Mendoza, Selma, Jiménez-Polvo, Nancy, Hernández-Nieto, Leticia, Carmona-Vargas, Jocelyn, García-Cruz, María L, Zavaleta-Martínez, Óscar, Román-Montes, Carla M, Cervantes-Parra, Victoria, González-Reynoso, Anelena, Guzmán-Cotaya, Rogelio, Espinosa-Rosales, Francisco, Saltigeral-Simental, Patricia, Espinosa-Padilla, Sara, and Blancas Galicia, Lizbeth

Published
2024
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3. Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico

Author

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, and Blancas Galicia, Lizbeth

Published
2023
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4. Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature

Author

Vásquez-Echeverri, Estefanía, Yamazaki-Nakashimada, Marco Antonio, Venegas Montoya, Edna, Scheffler Mendoza, Selma Cecilia, Castano-Jaramillo, Lina Maria, Medina-Torres, Edgar Alejandro, González-Serrano, Maria Edith, Espinosa-Navarro, Melissa, Bustamante Ogando, Juan Carlos, González-Villarreal, María Guadalupe, Ortega Cisneros, Margarita, Valencia Mayoral, Pedro Francisco, Consuelo Sanchez, Alejandra, Varela-Fascinetto, Gustavo, Ramírez-Uribe, Rosa María Nideshda, Salazar Gálvez, Yuridia, Bonifaz Alonzo, Laura Cecilia, Fuentes-Pananá, Ezequiel Moisés, Gómez Hernández, Noemí, Rojas Maruri, César Mauricio, Casanova, Jean-Laurent, Espinosa-Padilla, Sara Elva, Staines Boone, Aidé Tamara, López-Velázquez, Gabriel, Boisson, Bertrand, and Lugo Reyes, Saul Oswaldo

Published
2023
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5. Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease

Author

León-Lara, Ximena, primary, Pérez-Blanco, Uriel, additional, Yamazaki-Nakashimada, Marco A, additional, Bustamante-Ogando, Juan Carlos, additional, Aguilar-Gómez, Nancy, additional, Cristerna-Tarrasa, Hernán, additional, Staines-Boone, Aidé Tamara, additional, Saucedo-Ramírez, Omar J, additional, Fregoso-Zuñiga, Eunice, additional, Macías-Robles, Ana Paola, additional, Canseco-Raymundo, María R, additional, Venancio-Hernández, Marco, additional, Moctezuma-Trejo, Cristina, additional, Gámez-González, Berenise, additional, Zarate-Hernández, Carmen, additional, Ramírez-Rivera, Roselia, additional, Scheffler-Mendoza, Selma, additional, Jiménez-Polvo, Nancy, additional, Hernández-Nieto, Leticia, additional, Carmona-Vargas, Jocelyn, additional, García-Cruz, María L, additional, Zavaleta-Martínez, Óscar, additional, Román-Montes, Carla M, additional, Cervantes-Parra, Victoria, additional, González-Reynoso, Anelena, additional, Guzmán-Cotaya, Rogelio, additional, Espinosa-Rosales, Francisco, additional, Saltigeral-Simental, Patricia, additional, Espinosa-Padilla, Sara, additional, and Galicia, Lizbeth Blancas, additional

Published
2024
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6. Atypical patterns of STAT3 phosphorylation in subpopulations B cells in patients with common variable immunodeficiency

Author

Olguin-Calderón, Diana, Velásquez-Ortiz, Ma. Guadalupe, Huerta-Robles, H. M. Raquel, López-Herrera, Gabriela, Segura-Méndez, Nora H., O’Farrill-Romanillos, Patricia, Scheffler-Mendoza, Selma, Yamazaki-Nakashimada, Marco A., García-Cruz, Ma. Lourdes, Espinosa-Padilla, Sara E., Staines-Boone, Tamara A., Santos-Argumedo, Leopoldo, and Berrón-Ruiz, Laura

Published
2022
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7. CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics

Author

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, and Condino-Neto, Antonio

Published
2022
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8. COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico

Author

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, and Lugo Reyes, Saul O.

Published
2021
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9. Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations

Author

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, and Cruz-Munoz, Mario Ernesto

Published
2021
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11. Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function

Author

Staines-Boone, Aidé Tamara, primary, Vignesh, Pandiarajan, additional, Tsumura, Miyuki, additional, de la Garza Fernández, Germán, additional, Tyagi, Reva, additional, Rawat, Amit, additional, Das, Jhumki, additional, Tomomasa, Dan, additional, Asano, Takaki, additional, Hijikata, Atsushi, additional, Salazar-Gálvez, Yuridia, additional, Kanegane, Hirokazu, additional, Okada, Satoshi, additional, and Reyes, Saul O Lugo, additional

Published
2023
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12. Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

Author

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, Yamazaki-Nakashimada, Marco, Espinosa-Padilla, Sara, and Bustamante, Jacinta

Published
2020
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13. Correction to: CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics

Author

França, Tábata Takahashi, Barreiros, Lucila Akune, Salgado, Ranieri Coelho, da Silva Napoleão, Sarah Maria, 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, de barros Dorna, Mayra, Rosario‑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, and Condino‑Neto, Antonio

Published
2022
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14. Latin American consensus on the supportive management of patients with severe combined immunodeficiency

Author

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, and Espinosa Rosales, Francisco Javier

Published
2019
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16. Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion

Author

Edna Venegas-Montoya, Aidé Tamara Staines-Boone, Luz María Sánchez-Sánchez, Jorge Alberto García-Campos, Rubén Antonio Córdova-Gurrola, Yuridia Salazar-Galvez, David Múzquiz-Zermeño, María Edith González-Serrano, and Saul O. Lugo Reyes

Subjects
DOCK8 deficiency, large deletion, Hyper-IgE, case report, combined immune deficiency, literature review, Pediatrics, RJ1-570
Abstract

Autosomal recessive (AR) DOCK8 deficiency is a well-known actinopathy, a combined primary immune deficiency with impaired actin polymerization that results in altered cell mobility and immune synapse. DOCK8-deficient patients present early in life with eczema, viral cutaneous infections, chronic mucocutaneous candidiasis, bacterial pneumonia, and abscesses, together with eosinophilia, thrombocytosis, lymphopenia, and variable dysgammaglobulinemia that usually includes Hyper-IgE. In fact, before its genetic etiology was known, patients were described as having a form of Hyper-IgE syndrome, a name now deprecated in favor of genetic defects. We describe a school-age male patient with a clinical picture suggestive of DOCK8 deficiency, except for high serum IgE or a family history: early onset, failure to thrive, eczema, warts, condyloma, bronchiolitis, pneumonia, recurrent otitis media, bronchiectasis, candidiasis, leukocytosis, eosinophilia, high IgA, low IgG, and low CD4+ T cells. We were able to confirm the diagnosis through protein expression and whole-exome sequencing. We review the clinical, laboratory, and genetic features of 200 DOCK8-deficient patients; at least 4 other patients have had no elevated IgE, and about 40% do not have Hyper-IgE (above 1,000 IU/mL). Despite this, the constellation of signs, symptoms, and findings allow the suspicion of DOCK8 deficiency and other actinopathies.

Published
2021
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17. Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.

Author

Liquidano‐Perez, Eduardo, Maza‐Ramos, Gibert, Perez Arias, Bethy Alexandra, Lugo Reyes, Saul Oswaldo, Barragan Arevalo, Tania, Solorzano‐Morales, Sara Alejandra, Venegas Montoya, Edna, Staines‐Boone, Aidé Tamara, Guzmán Cotaya, Rogelio, Okada, Satoshi, Picard, Capucine, Patin, Etienne, Ramirez‐Uribe, Nideshda, Bustamante‐Ogando, Juan Carlos, Scheffler‐Mendoza, Selma Cecilia, Yamazaki‐Nakashimada, Marco Antonio, Saez‐de‐Ocariz, Marimar, Espinosa Padilla, Sara Elva, and Gonzalez‐Serrano, Maria Edith

Subjects
JOB'S syndrome, GUANINE nucleotide exchange factors, IMMUNOLOGICAL deficiency syndromes, TUBERCULOSIS, ECZEMA, FOOD allergy, OOCYSTS, AUTOIMMUNE diseases
Abstract

Purpose: We aimed to describe the clinical, immunological, and genetic features of patients with DOCK8 deficiency (DOCK8‐Def) in a tertiary care center for children. Methods: Retrospective chart review of patients' clinical, immunological, and genetic characteristics with DOCK8‐Def. Genetic analysis was performed with targeted‐ or whole‐exome sequencing; we also assessed DOCK8 protein expression and a lymphoproliferation assay and analyzed survival by the Kaplan–Meier method. Results: We described 11 patients from 8 unrelated kindreds. The median age at symptoms' onset was 10 months (range 1–54 months). The median follow‐up time was 53.4 months (4.8–118.8). All patients presented eczema and recurrent sinopulmonary and cutaneous infections. Besides those symptoms, the most frequent manifestations were bronchiectases (8/11), food allergies (6/11), and severe infections (6/11). Infrequent characteristics were detection of CMV in bronchial lavage, C. parvum‐driven sclerosing cholangitis, Takayasu vasculitis, neurological syndromes, pulmonary tuberculosis, and lymphomatoid granulomatosis. Conclusion: DOCK8‐Def has a broad spectrum of manifestations, including allergy, autoimmunity, inflammation, infection, and cancer. The hallmark of this inborn error of immunity is IEI‐associated eczema with eosinophilia and increased IgE. Here, we report six new mutations causing human DOCK8 deficiency and symptoms previously unrecognized to occur in DOCK8‐Def. Therefore, an early diagnosis of DOCK8‐Def is essential to facilitate an adequate treatment such as HSCT. [ABSTRACT FROM AUTHOR]

Published
2024
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18. Correction to: Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations

Author

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, and Cruz-Munoz, Mario Ernesto

Published
2021
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19. Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

Author

Aidé Tamara Staines Boone, Ivan K. Chinn, Carmen Alaez-Versón, Marco A. Yamazaki-Nakashimada, Karol Carrillo-Sánchez, María de la Luz Hortensia García-Cruz, M. Cecilia Poli, M. Edith González Serrano, Edgar A. Medina Torres, David Muzquiz Zermeño, Lisa R. Forbes, Francisco J. Espinosa-Rosales, Sara E. Espinosa-Padilla, Jordan S. Orange, and Saul Oswaldo Lugo Reyes

Subjects
DNA repair defects, ligase IV deficiency, primary immunodeficiency, inborn error of immunity, case series, clinical spectrum, Pediatrics, RJ1-570
Abstract

DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical manifestations since early in life, including: microcephaly, dysmorphic facial features, growth failure, developmental delay, mental retardation; hip dysplasia, and other skeletal malformations; as well as a severe combined immunodeficiency, radiosensitivity, and progressive bone marrow failure; or, they may present later in life with hematological neoplasias that respond catastrophically to chemo- and radiotherapy; or, they could be asymptomatic. We describe the clinical, laboratory, and genetic features of five Mexican patients with LIG4 deficiency, together with a review of 36 other patients available in PubMed Medline. Four out of five of our patients are dead from lymphoma or bone marrow failure, with severe infection and massive bleeding; the fifth patient is asymptomatic despite a persistent CD4+ lymphopenia. Most patients reported in the literature are microcephalic females with growth failure, sinopulmonary infections, hypogammaglobulinemia, very low B-cells, and radiosensitivity; while bone marrow failure and malignancy may develop at a later age. Dysmorphic facial features, congenital hip dysplasia, chronic liver disease, gradual pancytopenia, lymphoma or leukemia, thrombocytopenia, and gastrointestinal bleeding have been reported as well. Most mutations are compound heterozygous, and all of them are hypomorphic, with two common truncating mutations accounting for the majority of patients. Stem-cell transplantation after reduced intensity conditioning regimes may be curative.

Published
2019
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21. Is your kid actin out? A series of six patients with inherited ARPC1B deficiency and review of the literature

Author

Vásquez-Echeverri, Estefanía, primary, Yamazaki-Nakashimada, Marco Antonio, additional, Montoya, Edna Venegas, additional, Scheffler Mendoza, Selma Cecilia, additional, Castano-Jaramillo, Lina Maria, additional, Medina-Torres, Edgar Alejandro, additional, González-Serrano, Maria Edith, additional, Espinosa-Navarro, Melissa, additional, Bustamante Ogando, Juan Carlos, additional, González-Villarreal, María Guadalupe, additional, Ortega Cisneros, Margarita, additional, Mayoral, Pedro Francisco Valencia, additional, Sanchez, Alejandra Consuelo, additional, Varela-Fascinetto, Gustavo, additional, Ramírez-Uribe, Rosa María Nideshda, additional, Salazar Gálvez, Yuridia, additional, Bonifaz Alonzo, Laura Cecilia, additional, Fuentes Pananá, Ezequiel Moisés, additional, Gómez Hernández, Noemí, additional, Rojas Maruri, César Mauricio, additional, Casanova, Jean-Laurent, additional, Espinosa-Padilla, Sara Elva, additional, Staines Boone, Aidé Tamara, additional, López-Velázquez, Gabriel, additional, Boisson, Bertrand, additional, and Lugo Reyes, Saul Oswaldo, additional

Published
2023
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22. Calidad de vida de los pacientes con inmunodeficiencias primarias de anticuerpos

Author

Rodolfo Muriel-Vizcaíno, Gabriela Treviño-Garza, Chiharu Murata, Aidé Tamara Staines-Boone, Marco Antonio Yamazaki-Nakashimada, Sara Elba Espinosa-Padilla, and Francisco Javier Espinosa-Rosales

Subjects
calidad de vida, inmunodeficiencias de anticuerpos, inmunodeficiencias primarias, Medicine, Pediatrics, RJ1-570
Abstract

Las inmunodeficiencias primarias son enfermedades genéticas caracterizadas, en la mayoría de los casos, por la predisposición del individuo afectado a infecciones recurrentes o graves con afectación de su calidad de vida. Las más frecuentes son las de defectos en la producción de anticuerpos. Cuando no se hace un diagnóstico y tratamiento oportunos puede ocurrir daño permanente a órganos blanco afectando aún más la calidad de vida. Objetivo: evaluar la calidad de vida de los pacientes con inmunodeficiencias primarias por defectos en la producción de anticuerpos y compararla con la de controles sanos. Material y métodos: estudio transversal analítico mediante la aplicación del instrumento “Pediatric Quality of Life Inventory” (Peds- QL) en su versión validada en español mexicano. La diferencia del puntaje de PedsQL entre niños con inmunodeficiencias primarias y controles sanos se determinó por la prueba de t de Student. El efecto del retraso en el diagnóstico fue evaluado por el modelo de análisis de covarianza. Se incluyeron 28 pacientes. La mediana de edad fue 5 años y 5 meses. Resultados: el promedio de edad al diagnóstico fue de 6 años con 3 meses. La mediana de retraso diagnóstico fue de 3 años 3 meses. El promedio de calidad de vida en los pacientes fue de 74.1 (DE ± 13.8) y de 83.3 (DE ± 10.1) para los controles (p = 0.005). La relación entre calidad de vida, retraso diagnóstico y presencia de complicaciones se analizó mediante un modelo lineal que fue marginalmente significativo (p = 0.056). Se encontró correlación negativa entre concentraciones de IgG en el último año y la calidad de vida. Se observó que, en los pacientes que presentaban bronquiectasias, conforme aumentan los años de retraso en el diagnóstico la calidad de vida disminuye de forma significativa (p = 0.007). Conclusiones: consideramos necesario evaluar la calidad de vida para conocer el estado de salud de los pacientes con inmunodeficiencias primarias y para su seguimiento durante el tratamiento con el objeto de incidir no sólo en la reducción del número de infecciones, hospitalizaciones y complicaciones, sino también en la mejoría de su calidad de vida. Deberá diseñarse un instrumento específico para evaluar la calidad de vida de los pacientes con inmunodeficiencias primarias.

Published
2016
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23. CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics

Author

Tábata Takahashi França, Lucila Akune Barreiros, Ranieri Coelho Salgado, Sarah Maria da Silva Napoleão, Lillian Nunes Gomes, Janáira Fernandes Severo Ferreira, Carolina Prando, Cristina Worm Weber, Regina Sumiko Watanabe Di Gesu, Cecilia Montenegro, Carolina Sanchez Aranda, Gisele Kuntze, Aidé Tamara Staines-Boone, Edna Venegas-Montoya, Juan Carlos Aldave Becerra, Liliana Bezrodnik, Daniela Di Giovanni, Ileana Moreira, Gisela Analia Seminario, Andrea Cecilia Gómez Raccio, Mayra de Barros Dorna, Nelson Augusto Rosário-Filho, Herberto Jose Chong-Neto, Elisa de Carvalho, Milena Baptistella Grotta, Julio Cesar Orellana, Miguel Garcia Dominguez, Oscar Porras, Laura Sasia, Karina Salvucci, Emilio Garip, Luiz Fernando Bacarini Leite, Wilma Carvalho Neves Forte, Fernanda Pinto-Mariz, Ekaterini Goudouris, María Enriqueta Nuñez Nuñez, Magdalena Schelotto, Laura Berrón Ruiz, Diana Inés Liberatore, Hans D. Ochs, Otavio Cabral-Marques, and Antonio Condino-Neto

Subjects
Cohort Studies, Latin America, MUTAÇÃO GENÉTICA, CD40 Ligand, Immunology, Immunologic Deficiency Syndromes, Humans, Immunology and Allergy, Retrospective Studies
Abstract

CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.

Published
2022

24. Respuesta a la carta al Editor

Author

R Muriel-Vizcaíno, G Treviño-Garza, C Murata, AT Staines-Boone, MA Yamazaki-Nakashimada, SE Espinosa-Padilla, and FJ Espinosa-Rosales

Subjects
medicina, pediatria, metodología, investigación, Medicine, Pediatrics, RJ1-570
Abstract

Le agradecemos por darnos la oportunidad de contestar a la carta “Magnitud del tamaño del efecto y su importancia en la investigación pediátrica”1 del Dr. Tomás Caycho. También quisiéramos agradecer por las observaciones y comentarios del Dr. Caycho, a través de los cuales se señala la importancia y necesidad de reportar tamaño de efecto en los resultados de análisis estadístico en las investigaciones y de nuestro trabajo: “Calidad de vida de los pacientes con inmunodeficiencias primarias de anticuerpos”2 publicado en esta revista.

Published
2017
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25. Detection of inheritance pattern in thirty-three Mexican males with chronic granulomatous disease through 123 dihydrorhodamine assay

Author

Berrón-Ruiz, L., Morín-Contreras, A., Cano-García, V., Yamazaki-Nakashimada, M.A., Gómez-Tello, H., Vargas-Camaño, M.E., Canseco-Raymundo, R., Saracho-Weber, F., Pietropaolo-Cienfuegos, D., Del Río-Navarro, B., Staines-Boone, T., Espinosa-Rosales, F., González-Del Ángel, A., Saenz-de-Ocaris, M.M., Pacheco-Rosas, D., Espinosa-Padilla, S., Santos-Argumedo, L., and Blancas-Galicia, L.

Published
2014
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26. Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico

Author

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

Published
2022
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27. Clinical and immunological features of common variable immunodeficiency in Mexican patients

Author

Ramírez-Vargas, N., Arablin-Oropeza, S.E., Mojica-Martínez, D., Yamazaki-Nakashimada, M.A., de la Luz García-Cruz, M., Terán-Juárez, L.M., Cortés-Grimaldo, R.M., Torres-Lozano, C., Madrigal-Beas, I., Ortega-Cisneros, M., Vargas-Camaño, M.E., Staines-Boone, T., Pietropaolo-Cienfuegos, D., Berrón-Ruiz, L., Espinosa-Rosales, F.J., Guevara-Cruz, M., and Blancas-Galicia, L.

Published
2014
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28. Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature

Author

Aidé Tamara Staines-Boone, Caroline Deswarte, Edna Venegas Montoya, Luz María Sánchez-Sánchez, Jorge Alberto García Campos, Teodoro Muñiz-Ronquillo, Jacinta Bustamante, Francisco J. Espinosa-Rosales, and Saul Oswaldo Lugo Reyes

Subjects
interferon gamma receptor 1 deficiency, Mendelian susceptibility to mycobacterial disease, bacille Calmette–Guérin vaccine, osteomyelitis, hemophagocytic lymphohistiocytosis, human recombinant interferon gamma, Pediatrics, RJ1-570
Abstract

Mutations in the genes coding for cytokines, receptors, second messengers, and transcription factors of interferon gamma (IFN-γ) immunity cause Mendelian susceptibility to mycobacterial disease (MSMD). We report the case of a 7-year-old male patient with partial dominant (PD) IFN-γ receptor 1 deficiency who had suffered from multifocal osteomyelitis attributable to bacille Calmette–Guérin vaccination since the age of 18 months. He developed hemophagocytic lymphohistiocytosis (HLH), a hyper-inflammatory complication, and died with multiorgan dysfunction, despite having been diagnosed and treated relatively early. Patients with PD IFN-γR1 deficiency usually have good prognosis and might respond to human recombinant subcutaneous IFN-γ. Several monogenic congenital defects have been linked to HLH, a catastrophic “cytokine storm” that is usually ascribed to lymphocyte dysfunction and thought to be triggered by interferon gamma. This is the sixth patient with both MSMD and HLH of whom we are aware. The fact that patients with macrophages that cannot respond to IFN-γ still develop HLH, bring these assumptions into question.

Published
2017
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29. Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature

Author

Estefanía Vásquez-Echeverri, Marco Antonio Yamazaki-Nakashimada, Edna Venegas Montoya, Selma Cecilia Scheffler Mendoza, Lina Maria Castano-Jaramillo, Edgar Alejandro Medina-Torres, Maria Edith González-Serrano, Melissa Espinosa-Navarro, Juan Carlos Bustamante Ogando, María Guadalupe González-Villarreal, Margarita Ortega Cisneros, Pedro Francisco Valencia Mayoral, Alejandra Consuelo Sanchez, Gustavo Varela-Fascinetto, Rosa María Nideshda Ramírez-Uribe, Yuridia Salazar Gálvez, Laura Cecilia Bonifaz Alonzo, Ezequiel Moisés Fuentes-Pananá, Noemí Gómez Hernández, César Mauricio Rojas Maruri, Jean-Laurent Casanova, Sara Elva Espinosa-Padilla, Aidé Tamara Staines Boone, Gabriel López-Velázquez, Bertrand Boisson, and Saul Oswaldo Lugo Reyes

Subjects
Immunology and Allergy
Published
2023

30. Improved HUMARA for the Detection of X-Linked Agammaglobulinemia Carriers

Author

Eduardo Carrillo-Tapia, Sara E. Espinosa-Padilla, Daniela Perez-Perez, Maria E. Gonzalez-Serrano, Laura Berron-Ruiz, Francisco J. Espinosa-Rosales, Juan C. Rodriguez-Alba, Fabiola Mújica-Guzman, Emiy Yokoyama-Rebollar, Jose R. García-Flores, Norma E. Herrera-González, Selma Scheffler-Mendoza, Marco A. Yamazaki-Nakashimada, A. Tamara Staines-Boone, and Gabriela Lopez-Herrera

Subjects
Heterozygote, Agammaglobulinemia, X Chromosome Inactivation, Humans, Female, Genetic Diseases, X-Linked, General Medicine, Genetics (clinical)
Published
2022

31. Stem‐cell transplantation for children with primary immune deficiencies: A retrospective study of 19 patients from one centre in Mexico

Author

Aidé Tamara Staines‐Boone, María Guadalupe González‐Villareal, María Teresa Pompa‐Garza, Teodoro Muñiz‐Ronquillo, Adriana Carolina Sandoval‐González, David Muzquiz‐Zermeño, Marco Antonio Padilla‐Castro, Jorge Alberto García‐Campos, Luz María Sánchez‐Sánchez, Edna Venegas Montoya, and Saul O. Lugo Reyes

Subjects
Male, Transplantation Conditioning, Primary Immunodeficiency Diseases, Immunology, Hematopoietic Stem Cell Transplantation, Graft vs Host Disease, Humans, General Medicine, Child, Cyclophosphamide, Mexico, Retrospective Studies
Abstract

For many patients with primary immune deficiency (PID), stem-cell transplantation (SCT) may be life-saving.To review our experience of 11 years transplanting children with PID in Mexico.Chart review of patients who underwent SCT from 2008 to 2018, to describe their diagnoses, time to transplant, conditioning regime, survival rate and outcomes. All patients received post-transplant cyclophosphamide as graft-versus-host-disease (GVHD) prophylaxis.19 patients with combined, phagocytic or syndromic PID from 5 states. Twelve of them were male (58%) and 14 survive (79%). Mean age at HSCT was 41.9 months; mean time from diagnosis was 31.2 months. Seven grafts were umbilical cord and 12 haploidentical. The conditioning regime was myeloablative, with five primary graft failures. Two patients had partial and 10 full chimerism. Five patients died within 2 months after transplant. Immune reconstitution was complete in 11 of 19 patients. We found a prevalence of 21% GVHD.We describe 19 patients from Mexico with 8 PID diagnoses who underwent allogenic HSCT over a period of 11 years. Survival rate and other outcomes compare well with industrialized countries. We recommend the use of post-transplant cyclophosphamide to prevent GVHD in scenarios of resource scarcity and a lack of HLA-identical donors.

Published
2022

32. Improved HUMARA for the Detection of X-Linked Agammaglobulinemia Carriers

Author

Carrillo-Tapia, Eduardo, primary, Espinosa-Padilla, Sara E., additional, Perez-Perez, Daniela, additional, Gonzalez-Serrano, Maria E., additional, Berron-Ruiz, Laura, additional, Espinosa-Rosales, Francisco J., additional, Rodriguez-Alba, Juan C., additional, Mújica-Guzman, Fabiola, additional, Yokoyama-Rebollar, Emiy, additional, García-Flores, Jose R., additional, Herrera-González, Norma E., additional, Scheffler-Mendoza, Selma, additional, Yamazaki-Nakashimada, Marco A., additional, Staines-Boone, A. Tamara, additional, and Lopez-Herrera, Gabriela, additional

Published
2022
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33. Stem‐cell transplantation for children with primary immune deficiencies: A retrospective study of 19 patients from one centre in Mexico

Author

Staines‐Boone, Aidé Tamara, primary, González‐Villareal, María Guadalupe, additional, Pompa‐Garza, María Teresa, additional, Muñiz‐Ronquillo, Teodoro, additional, Sandoval‐González, Adriana Carolina, additional, Muzquiz‐Zermeño, David, additional, Padilla‐Castro, Marco Antonio, additional, García‐Campos, Jorge Alberto, additional, Sánchez‐Sánchez, Luz María, additional, Venegas Montoya, Edna, additional, and Lugo Reyes, Saul O., additional

Published
2022
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35. First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

Author

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., and Condino-Neto, Antonio

Published
2014
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37. Correction to: CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics

Author

Tábata Takahashi França, Lucila Akune Barreiros, Ranieri Coelho Salgado, Sarah Maria da Silva Napoleão, Lillian Nunes Gomes, Janáira Fernandes Severo Ferreira, Carolina Prando, Cristina Worm Weber, Regina Sumiko Watanabe Di Gesu, Cecilia Montenegro, Carolina Sanchez Aranda, Gisele Kuntze, Aidé Tamara Staines‑Boone, Edna Venegas‑Montoya, Juan Carlos Aldave Becerra, Liliana Bezrodnik, Daniela Di Giovanni, Ileana Moreira, Gisela Analia Seminario, Andrea Cecilia Gómez Raccio, Mayra de barros Dorna, Nelson Augusto Rosario‑Filho, Herberto Jose Chong‑Neto, Elisa de Carvalho, Milena Baptistella Grotta, Julio Cesar Orellana, Miguel Garcia Dominguez, Oscar Porras, Laura Sasia, Karina Salvucci, Emilio Garip, Luiz Fernando Bacarini Leite, Wilma Carvalho Neves Forte, Fernanda Pinto‑Mariz, Ekaterini Goudouris, María Enriqueta Nuñez Nuñez, Magdalena Schelotto, Laura Berrón Ruiz, Diana Inés Liberatore, Hans D. Ochs, Otavio Cabral‑Marques, and Antonio Condino‑Neto

Subjects
Immunology, Immunology and Allergy, ESTUDOS DE COORTES
Published
2022

38. Épulis congénito del recién nacido, criterios para el abordaje. Reporte de caso

Author

Francisco González-Salazar, Silvia Magdalena Martínez-Dávila, Maricela Staines-Boone, and Cecilio López-Jara

Subjects
Suction (medicine), Granular cell tumor, Pediatrics, medicine.medical_specialty, Epulis, business.industry, General Medicine, medicine.disease, Benign tumor, Alveolar crest, Swallowing, Maxilla, medicine, business, Congenital epulis
Abstract

Background The newborn congenital epulis or granular cell tumor is a benign tumor that appears in the oral cavity of newborns with more frequency in the gingiva of the alveolar crest of the maxilla at the level of the incisive and canine area, predominantly in the female sex. It is of diagnostic importance since it can interfere with feeding, swallowing and via area, putting the health of the newborn at risk. It usually involutes spontaneously and in case of surgical treatment there are no reports of recurrence. The aim of this work was to describe the evolution according to the approach of this patient with congenital newborn epulis. Case report The case of a patient of the newborn congenital epulis and its follow-up for 6 years is reviewed. Conclusions The surgical treatment of the newborn congenital epulis seems to be a good option of approach without the difficulties in the feeding, suction and breathing of the newborn.

Published
2021

39. Atypical patterns of STAT3 phosphorylation in subpopulations B cells in patients with common variable immunodeficiency

Author

Diana Olguin-Calderón, Ma. Guadalupe Velásquez-Ortiz, H. M. Raquel Huerta-Robles, Gabriela López-Herrera, Nora H. Segura-Méndez, Patricia O’Farrill-Romanillos, Selma Scheffler-Mendoza, Marco A. Yamazaki-Nakashimada, Ma. Lourdes García-Cruz, Sara E. Espinosa-Padilla, Tamara A. Staines-Boone, Leopoldo Santos-Argumedo, and Laura Berrón-Ruiz

Subjects
STAT3 Transcription Factor, B-Lymphocytes, Common Variable Immunodeficiency, Immunology, B-Lymphocyte Subsets, Immunology and Allergy, Humans, General Medicine, Phosphorylation, Lymphocyte Activation
Abstract

Common Variable Immunodeficiency (CVID) is a heterogeneous disorder characterized by defective B cell differentiation and antibody production. Interleukin (IL)-21 activates STAT3, a potent regulator of B cell differentiation into plasma cells. We have studied the phosphorylation of STAT3 in CVID patients and its contribution to B cells subsets.We studied 23 CVID patients and 14 healthy donors (HD), determining pSTAT3 in naïve and memory B cells, stimulated with IL-21 at 15 and 60 min.pSTAT3 was increased in total (p = 0.044), naïve (p = 0.023), and memory (p = 0.001) B cells at 60 min in CVID patients compared with HD. We classified patients by the percentage of isotype-switched memory B cells. We observed an increase in pSTAT3 at 60 min in memory B cells in both CVID groups of patients (p = 0.026, p = 0.007, respectively). Interestingly, the analysis of each group individually; demonstrated that patients with decreased memory B cells exhibited an increase in pSTAT3 at 60 min (p = 0.023), while HD had an expected decrease in pSTAT3 (p = 0.045).CVID patients showed an increased atypical of pSTAT3, which could affect the differentiation of B cells. Further studies in the IL-21 pathway are necessary to understand how this alteration could promote differentiation defects in patient B cells.

Published
2021

40. Congenital epulis of the newborn, criteria for the approach. Case report

Author

Silvia Magdalena, Martínez-Dávila, Maricela, Staines-Boone, Cecilio, López-Jara, and Francisco, González-Salazar

Subjects
Dogs, Gingival Neoplasms, Granular Cell Tumor, Infant, Newborn, Animals, Humans, Female, Neoplasm Recurrence, Local, Suction, Deglutition
Abstract

The newborn congenital epulis or granular cell tumor is a benign tumor that appears in the oral cavity of newborns with more frequency in the gingiva of the alveolar crest of the maxilla at the level of the incisive and canine area, predominantly in the female sex. It is of diagnostic importance since it can interfere with feeding, swallowing and via area, putting the health of the newborn at risk. It usually involutes spontaneously and in case of surgical treatment there are no reports of recurrence. The aim of this work was to describe the evolution according to the approach of this patient with congenital newborn epulis.The case of a patient of the newborn congenital epulis and its follow-up for 6 years is reviewed.The surgical treatment of the newborn congenital epulis seems to be a good option of approach without the difficulties in the feeding, suction and breathing of the newborn.El épulis congénito del recién nacido, o tumor de células granulares, es un tumor benigno que aparece en cavidad oral de los recién nacidos, con mayor frecuencia en la encía de la cresta alveolar del maxilar a nivel del área incisiva y canina, predominando en el sexo femenino. Es de importancia diagnóstica, ya que puede interferir con la alimentación, la deglución y la vía área, poniendo en riesgo la salud del recién nacido. Generalmente involuciona de manera espontánea y, en caso de tratamiento quirúrgico, no hay informes de recurrencia. Decidir la forma de abordaje en un recién nacido, por la complejidad y la inmadurez del organismo, implica un gran reto para los neonatólogos, los cirujanos pediatras y los especialistas del área bucal, como son los odontopediatras y los cirujanos maxilofaciales. El objetivo de este trabajo fue describir la evolución según el abordaje de esta paciente con épulis congénito del recién nacido.Se revisa el caso de una paciente con épulis congénito del recién nacido tratada quirúrgicamente y su seguimiento durante 6 años.De acuerdo con la evolución de este caso se puede concluir que el tratamiento quirúrgico puede ser una buena opción de abordaje sin que se presenten dificultades en la alimentación, la succión ni la respiración.

Published
2021

41. Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion

Author

María Edith González-Serrano, Edna Venegas-Montoya, Saul Oswaldo Lugo Reyes, David Múzquiz-Zermeño, Yuridia Salazar-Galvez, Rubén Antonio Córdova-Gurrola, Luz María Sánchez-Sánchez, Jorge García-Campos, and Aidé Tamara Staines-Boone

Subjects
0301 basic medicine, DOCK8 deficiency, literature review, Hyper-IgE, Pediatrics, RJ1-570, combined immune deficiency, 03 medical and health sciences, 0302 clinical medicine, medicine, large deletion, Eosinophilia, case report, Leukocytosis, Chronic mucocutaneous candidiasis, Dysgammaglobulinemia, Bronchiectasis, business.industry, medicine.disease, Pneumonia, 030104 developmental biology, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Failure to thrive, Immunology, medicine.symptom, DOCK8 Deficiency, business
Abstract

Autosomal recessive (AR) DOCK8 deficiency is a well-known actinopathy, a combined primary immune deficiency with impaired actin polymerization that results in altered cell mobility and immune synapse. DOCK8-deficient patients present early in life with eczema, viral cutaneous infections, chronic mucocutaneous candidiasis, bacterial pneumonia, and abscesses, together with eosinophilia, thrombocytosis, lymphopenia, and variable dysgammaglobulinemia that usually includes Hyper-IgE. In fact, before its genetic etiology was known, patients were described as having a form of Hyper-IgE syndrome, a name now deprecated in favor of genetic defects. We describe a school-age male patient with a clinical picture suggestive of DOCK8 deficiency, except for high serum IgE or a family history: early onset, failure to thrive, eczema, warts, condyloma, bronchiolitis, pneumonia, recurrent otitis media, bronchiectasis, candidiasis, leukocytosis, eosinophilia, high IgA, low IgG, and low CD4+ T cells. We were able to confirm the diagnosis through protein expression and whole-exome sequencing. We review the clinical, laboratory, and genetic features of 200 DOCK8-deficient patients; at least 4 other patients have had no elevated IgE, and about 40% do not have Hyper-IgE (above 1,000 IU/mL). Despite this, the constellation of signs, symptoms, and findings allow the suspicion of DOCK8 deficiency and other actinopathies.

Published
2021

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

Author

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

Subjects
Adult, Male, Risk, medicine.medical_specialty, Adolescent, Secondary infection, Primary Immunodeficiency Diseases, Immunology, Protective factor, Context (language use), Hyperinflammation, Systemic inflammation, Severity of Illness Index, Young Adult, Medical microbiology, Immunity, Internal medicine, medicine, Immunology and Allergy, Humans, Mortality, Child, Case series, Mexico, Immune deficiencies, Retrospective Studies, business.industry, SARS-CoV-2, COVID-19, Infant, Retrospective cohort study, Inborn errors of immunity, MIS-C/PIMS, Middle Aged, medicine.disease, Survival Analysis, Pneumonia, Child, Preschool, Female, Original Article, medicine.symptom, business
Abstract

Introduction Patients with inborn errors of immunity (IEI) have a compromised or inappropriate immune response. Although they might be considered a high-risk group for severe SARS-CoV-2 infection, the reported impact of COVID-19 in these patients has been reassuring, while the differential susceptibility of distinct types of IEI remains unclear. Objective We aimed to describe the findings and outcomes of our known patients with IEI who were diagnosed with COVID-19. Methods In a retrospective study from March 2020 to February 2021, four centers in Mexico collected clinical, laboratory, and genetic data from pediatric and adult patients with known diagnoses of IEI who presented with COVID-19, based on compatible symptoms and positive SARS-CoV-2 testing or known household exposure. Results We report 31 patients with known IEI from Mexico who presented with SARS-CoV-2 infection. Seventy-four percent were male, 52% were pediatric, and 81% survived. Their ages ranged from 5 months to 56 years, with a median of 17 years. Sixty-five percent had predominant antibody deficiencies, 48% were hospitalized, and 26% required ICU. Pediatric patients had a higher hospital admission rate than adults. Inpatient mortality was 40%, and ICU mortality rate was 63%. Forty-eight percent developed pneumonia, while 36% had evidence of hyperinflammation (4 adults and 7 children). Predominant laboratory features were lymphopenia and thrombocytopenia, seen in 70 and 44% of patients, respectively. The serum D-dimer median value was 2.6 (0.5–20.6) μg/mL, and the median highest ferritin value was 1015 (32–10,303) ng/mL. Intravenous immunoglobulin was used in 80% of patients. Other treatments included macrolides (39%) and corticosteroids (29%). Six patients died from secondary infection or uncontrolled systemic inflammation. Discussion Although impaired immunity due to IEI may be a predisposing factor for severe COVID-19, most of our patients with IEI who acquired the SARS-CoV-2 infection developed a well-tolerated infection and survived, as have more than 80% of worldwide reported patients to date. An impaired immune or inflammatory response may be a predisposing factor for some and a protective factor for others. A systematic review of the literature could help identify those patients at risk of severe disease and complications. Healthcare-associated infections should be aggressively prevented.

Published
2021

43. Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations

Author

Selma Scheffler-Mendoza, Edna Venegas-Montoya, Jorge Yáñez, Julie E. Niemela, Iván Martínez-Duncker, Guillermo Wakida, Karol Carrillo-Sánchez, Laura Berrón-Ruiz, Saúl Oswaldo Lugo-Reyes, Carolina Molina-Garay, Luigi D. Notarangelo, Mario E Cruz-Muñoz, Nina Pastor, Carmen Alaez-Verson, Aidé Tamara Staines-Boone, Paul Gaytán, Sara Elva Espinosa-Padilla, Marco Antonio Yamazaki-Nakashimada, Maria Enriqueta Nuñez-Nuñez, Luis Leonardo Flores-Lagunes, Edith González-Serrano, Ana Paola Macías-Robles, and Sergio D. Rosenzweig

Subjects
0301 basic medicine, Male, Adolescent, Immunology, chemical and pharmacologic phenomena, Biology, medicine.disease_cause, Recombination-activating gene, Article, Autoimmunity, 03 medical and health sciences, 0302 clinical medicine, RAG2, medicine, Immunology and Allergy, Missense mutation, Humans, Lymphocytes, Child, Mexico, Immunodeficiency, Homeodomain Proteins, Severe combined immunodeficiency, Immunologic Deficiency Syndromes, Infant, Nuclear Proteins, hemic and immune systems, medicine.disease, Phenotype, Omenn syndrome, DNA-Binding Proteins, 030104 developmental biology, Mutation, Female, 030215 immunology
Abstract

Mutations in Recombinase Activating Genes 1 and 2 (RAG1/2) results in human severe combined immunodeficiency (SCID). The products of these genes, are essential for V(D)J rearrangement of the antigen receptors during lymphocyte development. Nonsense mutations in RAG1 or RAG2 are associated with the most severe clinical and immunological phenotypes, whereas patients with missense mutations may develop leaky SCID or Omenn syndrome (OS). A group of non-previously recognized clinical phenotypes associated with granulomata and/or autoimmunity have been described as a consequence of hypomorphic mutations. Here we present six patients from unrelated families with missense variants in RAG1 or RAG2. Phenotypes observed in these patients ranged from OS to severe mycobacterial infections and granulomatous disease. Moreover, we report the first evidence of two previously unidentified variants as causative of pathological manifestations associated to immunodeficiency. This study represents the first case series of RAG1 or RAG2 deficient patients from Mexico and Latin America.

Published
2021

44. Risk factors of breast cancer in Mexican women Factores de riesco de cáncer de mama en mujeres mexicanas

Author

Ana Laura Calderón-Garcidueñas, Franklin Uriel Parás-Barrientos, Lilia Cárdenas-Ibarra, Juan Francisco González-Guerrero, Enrique Villarreal-Ríos, Tamara Staines-Boone, and Hugo A. Barrera-Saldaña

Subjects
neoplasmas de la mama, factores de riesgo, México, breast neoplasms, risk factors, Mexico, Public aspects of medicine, RA1-1270
Abstract

OBJECTIVE: To investigate the association between family history (FH) of neoplasia, gyneco-obstetric factors and breast cancer (BC) in a case--control study. In cases, to analyze those variables in relation with early onset of BC, the manner of detection (self-examination, prompted by pain, or casual), the size of tumor, and the elapsed time to seek medical attention. MATERIAL AND METHODS: Data from 151 prevalent BC cases and 235 age-matched controls were analyzed by multiple logistic regression, to assess the influence of BC risk factors. RESULTS: Ten per cent of patients and 1% of controls had first-degree relatives (FDR) with BC. Family history of FDR with BC (OR, 11.2; 95% CI 2.42-51.92) or with gastric or pancreatic cancer (OR, 17.7; 95% CI 2.2-142.6) was associated with BC risk. Breastfeeding at or under 25 years of age was protective against BC (OR, 0.40; 95% CI 0.24-0.66). The manner of tumor detection did not influence its size at the time of diagnosis. CONCLUSIONS: Our study confirms that FH of BC and/or of gastric or pancreatic carcinoma are risk factors for BC, while lactation at 25 years of age or earlier is protective.OBJETIVO: Investigar la asociación entre la historia familiar de neoplasias, factores ginecobstétricos y cáncer mamario (CM) en un estudio de casos y controles. Además, en los casos, estudiar estas variables en relación con inicio temprano del cáncer, forma de detección (autoexamen, exploración individual por dolor o casual), tamaño del tumor. MATERIAL E MÉTODOS: Entre enero y marzo de 1997 se estudiaron 151 casos prevalentes de CM y 235 controles pareados por edad provenientes del Hospital de Especialidades del Centro Médico del Noreste, Instituto Mexicano del Seguro Social, o del Hospital Universitario de la Universidad Autónoma de Nuevo León, ambos localizados en Monterrey, México. Los factores de riesgo se analizaron con regresión logística múltiple. RESULTADOS: Diez por ciento de casos y 1% de controles tuvieron historia familiar de primer grado para CM; este antecedente (razón de momios --RM, 11.2; IC 95%; 2.42-51.92) y el de carcinoma gástrico o pancreático (RM, 17.7; IC 95%; 2.2-142.6) se asociaron con riesgo de CM. El amamantar a los 25 años o menos fue factor protector (RM, 0.40; IC 95%; 0.24-0.66). La forma de detección del tumor no influyó en el tamaño del tumor al momento del diagnóstico. CONCLUSIONES: Se mostró que la historia familiar de CM y de carcinoma gástrico o pancreático son factores de riesgo para CM, mientras que la lactancia a los 25 años o antes, es protectora.

Published
2000

45. Risk factors of breast cancer in Mexican women

Author

Calderón-Garcidueñas Ana Laura, Parás-Barrientos Franklin Uriel, Cárdenas-Ibarra Lilia, González-Guerrero Juan Francisco, Villarreal-Ríos Enrique, Staines-Boone Tamara, and Barrera-Saldaña Hugo A.

Subjects
breast neoplasms, risk factors, Mexico, Public aspects of medicine, RA1-1270
Abstract

OBJECTIVE: To investigate the association between family history (FH) of neoplasia, gyneco-obstetric factors and breast cancer (BC) in a case--control study. In cases, to analyze those variables in relation with early onset of BC, the manner of detection (self-examination, prompted by pain, or casual), the size of tumor, and the elapsed time to seek medical attention. MATERIAL AND METHODS: Data from 151 prevalent BC cases and 235 age-matched controls were analyzed by multiple logistic regression, to assess the influence of BC risk factors. RESULTS: Ten per cent of patients and 1% of controls had first-degree relatives (FDR) with BC. Family history of FDR with BC (OR, 11.2; 95% CI 2.42-51.92) or with gastric or pancreatic cancer (OR, 17.7; 95% CI 2.2-142.6) was associated with BC risk. Breastfeeding at or under 25 years of age was protective against BC (OR, 0.40; 95% CI 0.24-0.66). The manner of tumor detection did not influence its size at the time of diagnosis. CONCLUSIONS: Our study confirms that FH of BC and/or of gastric or pancreatic carcinoma are risk factors for BC, while lactation at 25 years of age or earlier is protective.

Published
2000

46. Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion

Author

Venegas-Montoya, Edna, primary, Staines-Boone, Aidé Tamara, additional, Sánchez-Sánchez, Luz María, additional, García-Campos, Jorge Alberto, additional, Córdova-Gurrola, Rubén Antonio, additional, Salazar-Galvez, Yuridia, additional, Múzquiz-Zermeño, David, additional, González-Serrano, María Edith, additional, and Lugo Reyes, Saul O., additional

Published
2021
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47. Descripción de la Enfermedad BCG y Tuberculosis en una Cohorte de 79 pacientes con Enfermedad Granulomatosa Crónica.

Author

León Lara, Ximena, Pérez Blanco, Uriel, Yamazaki Nakashimada, Marco A., Aguilar Gómez, Nancy, Staines Boone, Tamara Aidé, Saucedo Ramírez, Omar J., Fregoso Zúñiga, Eunice, Macías Robles, Ana P., Canseco Raymundo, María R., Venancio Hernández, Marco, Moctezuma Trejo, Cristina, Gámez-González, Berenise, Zarate Hernández, Carmen, Ramírez Rivera, Roselia, Scheffler Mendoza, Selma, Jiménez Polvo, Nancy, Hernández Nieto, Leticia, Carmona Vargas, Jocelyn, García Cruz, María L., and Zavaleta Martínez, Óscar

Abstract

Copyright of Acta Pediatrica de Mexico is the property of Instituto Nacional de Pediatria (INP) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024

48. Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients With RAG1/2 Mutations: First Cases Series From Mexico and Description of Two Novel Mutations.

Author

Cruz-Munoz, Mario Ernesto, primary, Lugo-Reyes, Saul Oswaldo, additional, Pastor, Nina, additional, González-Serrano, Edith, additional, Yamazaki-Nakashimada, Marco, additional, Scheffer-Mendoza, Selma, additional, Berron-Ruiz, Laura, additional, Wakida, Guillermo, additional, Nuñez-Nuñez, Maria Enriqueta, additional, Macias-Robles, Ana Paola, additional, Staines-Boone, Aide Tamara, additional, Venegas-Montaya, Edna, additional, Alaez-Verson, Carmen, additional, Molina-Garay, Carolina, additional, Flores-Lagunes, Luis Leonardo, additional, Carrillo-Sánchez, Karol, additional, Niemela, Julie, additional, Rozensweig, Sergio, additional, Gaytan, Paul, additional, Yañez, Jorge, additional, Martinez-Duncker, Ivan, additional, Notarangelo, Luigi, additional, and Espinosa-Padilla, Sara, additional

Published
2021
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49. Post-transplant cyclophosphamide prevents graft-versus-host disease in Haploidentical stem-cell transplanted children with inborn errors of immunity: a single-center experience

Author

Aidé Tamara Staines Boone, Guadalupe Gonzalez-Villareal, Maria Teresa Pompa-Garza, Teodoro Muñiz-Ronquillo, Adriana Carolina Sandoval-Gonzalez, David Muzquiz-Zermeño, Marco Antonio Padilla-Castro, Jorge Alberto García-Campos, Luz Maria Sanchez-Sanchez, Edna Venegas Montoya, and Saul Oswaldo Lugo Reyes

Published
2020

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