TY - JOUR
T1 - Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease
AU - Blancas-Galicia, Lizbeth
AU - Santos-Chávez, Eros
AU - Deswarte, Caroline
AU - Mignac, Quentin
AU - Medina-Vera, Isabel
AU - León-Lara, Ximena
AU - Roynard, Manon
AU - Scheffler-Mendoza, Selma C.
AU - Rioja-Valencia, Ricardo
AU - Alvirde-Ayala, Alexandra
AU - Lugo Reyes, Saul O.
AU - Staines-Boone, Tamara
AU - García-Campos, Jorge
AU - Saucedo-Ramírez, Omar J.
AU - Del-Río_Navarro, Blanca E.
AU - Zamora-Chávez, Antonio
AU - López-Larios, Arturo
AU - García-Pavón-Osorio, Susana
AU - Melgoza-Arcos, Eugenia
AU - Canseco-Raymundo, María R.
AU - Mogica-Martínez, Dolores
AU - Venancio-Hernández, Marco
AU - Pacheco-Rosas, Daniel
AU - Pedraza-Sánchez, Sigifredo
AU - Guevara-Cruz, Martha
AU - Saracho-Weber, Federico
AU - Gámez-González, Berenise
AU - Wakida-Kuzunoki, Guillermo
AU - Morán-Mendoza, Ana R.
AU - Macías-Robles, Ana P.
AU - Ramírez-Rivera, Roselia
AU - Vargas-Camaño, Eugenia
AU - Zarate-Hernández, Carmen
AU - Gómez-Tello, Héctor
AU - Ramírez-Sánchez, Emmanuel
AU - Ruíz-Hernández, Fredy
AU - Ramos-López, Domingo
AU - Acuña-Martínez, Héctor
AU - García-Cruz, María L.
AU - Román-Jiménez, María G.
AU - González-Villarreal, Marina G.
AU - Álvarez-Cardona, Aristóteles
AU - Llamas-Guillén, Beatriz A.
AU - Cuellar-Rodríguez, Jennifer
AU - Olaya-Vargas, Alberto
AU - Ramírez-Uribe, Nideshda
AU - Boisson-Dupuis, Stéphanie
AU - Casanova, Jean Laurent
AU - Espinosa-Rosales, Francisco J.
AU - Serafín-López, Jeanet
AU - Yamazaki-Nakashimada, Marco
AU - Espinosa-Padilla, Sara
AU - Bustamante, Jacinta
N1 - Publisher Copyright:
© 2020, Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2020/4/1
Y1 - 2020/4/1
N2 - 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.
AB - 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.
KW - Chronic granulomatous disease
KW - NADPH oxidase
KW - mycobacteria
KW - recurrent infection
UR - http://www.scopus.com/inward/record.url?scp=85079435806&partnerID=8YFLogxK
U2 - 10.1007/s10875-020-00750-5
DO - 10.1007/s10875-020-00750-5
M3 - Artículo
C2 - 32040803
AN - SCOPUS:85079435806
SN - 0271-9142
VL - 40
SP - 475
EP - 493
JO - Journal of Clinical Immunology
JF - Journal of Clinical Immunology
IS - 3
ER -