Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients.

Authors

Julian Rojas, Carlos A Arango-Franco, Marcela Moncada-Velez, Diana Marcela Arboleda, Edgar Alfonso Figueredo, Manuela Molina, Juan Pablo Sánchez, Lina Marcela Zapata, Paula Catalina Diaz, Jesús Armando Álvarez, Maria S Serna-Arbelaez, Lizet Jazmin Pérez Zapata, Gabriel Vélez, Camille Soudée, Juan F Alzate, Felipe Cabarcas, Catalina Obando Gil, Carlos Garcés, Martha I Alvarez-Olmos, Paola Marcela Pérez-Camacho, Diego Medina-Valencia, Jaime Alberto Patiño-Niño, Juan Pablo Rendón, María Claudia Ortega-López, Luz Elena Cano, Juan Francisco López, Flor Marcela Estupiñán, Mauricio Chaparro, Laura Niño, Andrés Felipe Escobar, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Anne Puel, Carlos Olmos, Luis Miguel Sosa, Patrick Eliana Sarmiento-Wilches, César Muñoz, Julio Cesar Orrego, Juan Álvaro López, Manuela Olaya-Hernández, Natalia Builes, Estefanía Vásquez-Echeverri, Natalia Vélez-Tirado, José Luis Franco, Lina María Castaño-Jaramillo, Jacinta Bustamante, Andrés Augusto Arias

Published in

Journal of human immunity. Volume 2. Issue 4. Pages e20250257. Jul 06, 2026. Epub May 21, 2026.

Abstract

Chronic granulomatous disease (CGD) is an inborn error of immunity of caused by pathogenic variants of genes encoding components of the phagocyte NADPH oxidase complex, resulting in defective reactive oxygen species production and impaired microbial killing. We conducted a multicenter evaluation of 39 Colombian patients with CGD from 32 unrelated kindreds, describing their clinical, microbiological, and genetic characteristics. Genetic analyses were performed for 31/39 patients and identified variants of the following genes: CYBB (n = 22), CYBA (n = 3), NCF1 (n = 1), NCF2 (n = 1), and NCF4 (n = 4). All but three of the patients had symptoms, the exceptions being individuals with p40 ^phox deficiency. BCG-related complications occurred in eight patients, pulmonary tuberculosis in four, and Salmonella spp. bacteremia in 12 of 17 patients with Salmonella infections. Colombian patients with CGD had clinical and microbiological profiles similar to those reported across Latin America. The genetic findings broaden the regional variant spectrum and emphasize the need for earlier diagnosis and better access to specialist testing.

PMID:
42180170
Bibliographic data and abstract were imported from PubMed on 16 Sep 2026.

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