Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease
Por:
Blancas-Galicia L., Santos-Chávez E., Deswarte C., Mignac Q., Medina-Vera I., León-Lara X., Roynard M., Scheffler-Mendoza S.C., Rioja-Valencia R., Alvirde-Ayala A., Lugo Reyes S.O., Staines-Boone T., García-Campos J., Saucedo-Ramírez O.J., Del-Río_Navarro B.E., Zamora-Chávez A., López-Larios A., García-Pavón-Osorio S., Melgoza-Arcos E., Canseco-Raymundo M.R., Mogica-Martínez D., Venancio-Hernández M., Pacheco-Rosas D., Pedraza-Sánchez S., Guevara-Cruz M., Saracho-Weber F., Gámez-González B., Wakida-Kuzunoki G., Morán-Mendoza A.R., Macías-Robles A.P., Ramírez-Rivera R., Vargas-Camaño E., Zarate-Hernández C., Gómez-Tello H., Ramírez-Sánchez E., Ruíz-Hernández F., Ramos-López D., Acuña-Martínez H., García-Cruz M.L., Román-Jiménez M.G., González-Villarreal M.G., Álvarez-Cardona A., Llamas-Guillén B.A., Cuellar-Rodríguez J., Olaya-Vargas A., Ramírez-Uribe N., Boisson-Dupuis S., Casanova J.-L., Espinosa-Rosales F.J., Serafín-López J., Yamazaki-Nakashimada M., Espinosa-Padilla S., Bustamante J.
Publicada:
1 ene 2020
Resumen:
Purpose: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD diagnosed in Mexico from 2011 to 2019. Methods: Thirteen Mexican hospitals participated in this study. We describe the genetic, immunological, and clinical features of the 93 CGD patients from 78 unrelated kindreds. Results: Eighty-two of the patients (88%) were male. All patients developed bacterial infections and 30% suffered from some kind of fungal infection. Fifty-four BCG-vaccinated patients (58%) presented infectious complications of BCG vaccine. Tuberculosis occurred in 29%. Granulomas were found in 56% of the patients. Autoimmune and inflammatory diseases were present in 15% of patients. A biological diagnosis of CGD was made in 89/93 patients, on the basis of NBT assay (n = 6), DHR (n = 27), and NBT plus DHR (n = 56). The deficiency was complete in all patients. The median age of biological diagnosis was 17 months (range, 0–186 months). A genetic diagnosis was made in 83/93 patients (when material was available), corresponding to CYBB (n = 64), NCF1 (n = 7), NCF2 (n = 7), and CYBA (n = 5) mutations. Conclusions: The clinical manifestations in these Mexican CGD patients were similar to those in patients elsewhere. This cohort is the largest in Latin America. Mycobacterial infections are an important cause of morbidity in Mexico, as in other countries in which tuberculosis is endemic and infants are vaccinated with BCG. X-linked CGD accounted for most of the cases in Mexico, as in other Latin American countries. However, a significant number of CYBA and NCF2 mutations were identified, expanding the spectrum of known causal mutations. © 2020, Springer Science+Business Media, LLC, part of Springer Nature.
Filiaciones:
Blancas-Galicia L.:
Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, Mexico City, Mexico
Laboratorio de Inmunología molecular II, Escuela Nacional de Ciencias Biológicas, IPN, Mexico City, Mexico
Santos-Chávez E.:
Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, Mexico City, Mexico
Deswarte C.:
Imagine Institute, Paris University, Paris, France
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France
Mignac Q.:
Imagine Institute, Paris University, Paris, France
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France
Medina-Vera I.:
Departamento de Metodología de la investigación, Instituto Nacional de Pediatría, Mexico City, Mexico
León-Lara X.:
Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, Mexico City, Mexico
Roynard M.:
Imagine Institute, Paris University, Paris, France
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France
Scheffler-Mendoza S.C.:
Departamento de Inmunología Clínica, Instituto Nacional de Pediatría, Mexico City, Mexico
Rioja-Valencia R.:
Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, Mexico City, Mexico
Alvirde-Ayala A.:
Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, Mexico City, Mexico
Lugo Reyes S.O.:
Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, Mexico City, Mexico
Staines-Boone T.:
Departamento de Inmunología, UMAE # 25, Monterrey, Mexico
García-Campos J.:
Departamento de Inmunología, UMAE # 25, Monterrey, Mexico
Saucedo-Ramírez O.J.:
Departamento de Alergia, Hospital Infantil de México Federico Gómez, México City, Mexico
Del-Río_Navarro B.E.:
Departamento de Alergia, Hospital Infantil de México Federico Gómez, México City, Mexico
Zamora-Chávez A.:
Departamento de Medicina Interna, Hospital Infantil de México Federico Gómez, Mexico City, Mexico
López-Larios A.:
Unidad de Inmunología Clínica, Hospital CIMA, Hermosillo, Sonora, Mexico
García-Pavón-Osorio S.:
Departamento de Alergia e Inmunología, Hospital Naval, Mexico City, Mexico
Melgoza-Arcos E.:
Unidad de Terapia Intensiva Pediátrica, Hospital Naval, Mexico City, Mexico
Canseco-Raymundo M.R.:
Departamento de Alergia e Inmunología Clínica, UMAE, “LA RAZA”, Mexico City, Mexico
Mogica-Martínez D.:
Departamento de Alergia e Inmunología Clínica, UMAE, “LA RAZA”, Mexico City, Mexico
Venancio-Hernández M.:
Departamento de Alergia e Inmunología Clínica, UMAE, “LA RAZA”, Mexico City, Mexico
Pacheco-Rosas D.:
Departamento de Infectología Pediátrica, UMAE “Siglo XXI”, Mexico City, Mexico
Pedraza-Sánchez S.:
Unidad de Bioquímica, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, Mexico
Guevara-Cruz M.:
Departamento de Fisiología de la Nutrición, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico
Saracho-Weber F.:
Departamento de Enseñanza, Hospital Infantil de Especialidades, Chihuahua, Mexico
Gámez-González B.:
Departamento de Alergia e Inmunología, Hospital Infantil de Especialidades Chihuahua, Chihuahua, Mexico
Wakida-Kuzunoki G.:
Departamento de Pediatría, Hospital Central Sur “PEMEX”, Mexico City, Mexico
Morán-Mendoza A.R.:
Departamento de Alergia e Inmunología Clínica Pediátrica, UMAE, CMNO, Guadalajara, Mexico
Macías-Robles A.P.:
Departamento de Alergia e Inmunología Clínica Pediátrica, UMAE, CMNO, Guadalajara, Mexico
Ramírez-Rivera R.:
Departamento de Pediatría, Hospital de Especialidades del Niño y la Mujer, “Dr Felipe Nuñez Lara”, Querétaro, Mexico
Vargas-Camaño E.:
Departamento de Alergia e Inmunología, CMN “20 de Noviembre”, Mexico City, Mexico
Zarate-Hernández C.:
CRAIC, Hospital Universitario “Dr. José Eleuterio González”, Universidad Autónoma de Nuevo León, Monterrey, Mexico
Gómez-Tello H.:
Departamento de Alergia e Inmunología, Hospital del Niño Poblano, Puebla, Puebla, Mexico
Ramírez-Sánchez E.:
Hospital General de Playa del Carmen, Playa del Carmen, Quintana Roo, Mexico
Ruíz-Hernández F.:
Departamento de Inmunología, Hospital de la Niñez Oaxaqueña, Oaxaca, Mexico
Ramos-López D.:
Departamento de Alergia, Clínica #2, IMSS, San Luis Potosí, Mexico
Acuña-Martínez H.:
Departamento de Inmunología, Hospital de Especialidades Pediátricas, Tuxtla Gutiérrez, Chiapas, Mexico
García-Cruz M.L.:
Departamento de Otorrinolaringología, INER, Mexico City, Mexico
Román-Jiménez M.G.:
Departamento de Traumatología y Ortopedia, UMAE, Hospital de Traumatología y Ortopedia, Puebla, Mexico
González-Villarreal M.G.:
Departamento de Hematología Pediátrica, UMAE # 25, Monterrey, Mexico
Álvarez-Cardona A.:
Departamento de Alergia e Inmunología, Hospital Star Médica, Aguascalientes, Mexico
Llamas-Guillén B.A.:
Departamento de Alergia e Inmunología, Hospital del Niño Morelense, Emiliano Zapata, Morelos, Mexico
Cuellar-Rodríguez J.:
Departamento de Infectología, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico
Olaya-Vargas A.:
Programa de Trasplante de Medula Ósea y Terapia Celular, Instituto Nacional de Pediatría, Mexico City, Mexico
Ramírez-Uribe N.:
Programa de Trasplante de Medula Ósea y Terapia Celular, Instituto Nacional de Pediatría, Mexico City, Mexico
Boisson-Dupuis S.:
Imagine Institute, Paris University, Paris, France
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States
Casanova J.-L.:
Imagine Institute, Paris University, Paris, France
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States
Howard Hughes Medical Institute, New York, NY, United States
Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children AP-HP, Paris, France
Espinosa-Rosales F.J.:
Fundación Mexicana para Niñas y Niños con Inmunodeficiencias Primarias, A.C, Mexico City, Mexico
Serafín-López J.:
Laboratorio de Inmunología molecular II, Escuela Nacional de Ciencias Biológicas, IPN, Mexico City, Mexico
Yamazaki-Nakashimada M.:
Departamento de Inmunología Clínica, Instituto Nacional de Pediatría, Mexico City, Mexico
Espinosa-Padilla S.:
Unidad de Investigación en Inmunodeficiencias, Instituto Nacional de Pediatría, Mexico City, Mexico
Bustamante J.:
Imagine Institute, Paris University, Paris, France
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States
Study Center for Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, France
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