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