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

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.

Medienart:

E-Artikel

Erscheinungsjahr:

2020

Erschienen:

2020

Enthalten in:

Zur Gesamtaufnahme - volume:40

Enthalten in:

Journal of clinical immunology - 40(2020), 3 vom: 10. Apr., Seite 475-493

Sprache:

Englisch

Beteiligte Personen:

Blancas-Galicia, Lizbeth [VerfasserIn]
Santos-Chávez, Eros [VerfasserIn]
Deswarte, Caroline [VerfasserIn]
Mignac, Quentin [VerfasserIn]
Medina-Vera, Isabel [VerfasserIn]
León-Lara, Ximena [VerfasserIn]
Roynard, Manon [VerfasserIn]
Scheffler-Mendoza, Selma C [VerfasserIn]
Rioja-Valencia, Ricardo [VerfasserIn]
Alvirde-Ayala, Alexandra [VerfasserIn]
Lugo Reyes, Saul O [VerfasserIn]
Staines-Boone, Tamara [VerfasserIn]
García-Campos, Jorge [VerfasserIn]
Saucedo-Ramírez, Omar J [VerfasserIn]
Del-Río Navarro, Blanca E [VerfasserIn]
Zamora-Chávez, Antonio [VerfasserIn]
López-Larios, Arturo [VerfasserIn]
García-Pavón-Osorio, Susana [VerfasserIn]
Melgoza-Arcos, Eugenia [VerfasserIn]
Canseco-Raymundo, María R [VerfasserIn]
Mogica-Martínez, Dolores [VerfasserIn]
Venancio-Hernández, Marco [VerfasserIn]
Pacheco-Rosas, Daniel [VerfasserIn]
Pedraza-Sánchez, Sigifredo [VerfasserIn]
Guevara-Cruz, Martha [VerfasserIn]
Saracho-Weber, Federico [VerfasserIn]
Gámez-González, Berenise [VerfasserIn]
Wakida-Kuzunoki, Guillermo [VerfasserIn]
Morán-Mendoza, Ana R [VerfasserIn]
Macías-Robles, Ana P [VerfasserIn]
Ramírez-Rivera, Roselia [VerfasserIn]
Vargas-Camaño, Eugenia [VerfasserIn]
Zarate-Hernández, Carmen [VerfasserIn]
Gómez-Tello, Héctor [VerfasserIn]
Ramírez-Sánchez, Emmanuel [VerfasserIn]
Ruíz-Hernández, Fredy [VerfasserIn]
Ramos-López, Domingo [VerfasserIn]
Acuña-Martínez, Héctor [VerfasserIn]
García-Cruz, María L [VerfasserIn]
Román-Jiménez, María G [VerfasserIn]
González-Villarreal, Marina G [VerfasserIn]
Álvarez-Cardona, Aristóteles [VerfasserIn]
Llamas-Guillén, Beatriz A [VerfasserIn]
Cuellar-Rodríguez, Jennifer [VerfasserIn]
Olaya-Vargas, Alberto [VerfasserIn]
Ramírez-Uribe, Nideshda [VerfasserIn]
Boisson-Dupuis, Stéphanie [VerfasserIn]
Casanova, Jean-Laurent [VerfasserIn]
Espinosa-Rosales, Francisco J [VerfasserIn]
Serafín-López, Jeanet [VerfasserIn]
Yamazaki-Nakashimada, Marco [VerfasserIn]
Espinosa-Padilla, Sara [VerfasserIn]
Bustamante, Jacinta [VerfasserIn]

Links:

Volltext

Themen:

CYBB protein, human
Chronic granulomatous disease
EC 1.6.3.-
EC 1.6.3.1
Journal Article
Mycobacteria
NADPH Oxidase 2
NADPH Oxidases
NADPH oxidase
NCF2 protein, human
Neutrophil cytosolic factor 1
Recurrent infection
Research Support, Non-U.S. Gov't

Anmerkungen:

Date Completed 04.08.2021

Date Revised 01.08.2022

published: Print-Electronic

Citation Status MEDLINE

doi:

10.1007/s10875-020-00750-5

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM306353288