ArticleJournal of human immunity2026
Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients.
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Article in Journal of human immunity, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1citing papers in PubMed
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What it found
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Who cites it
1 citing paper in PubMed.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
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Authors and funding
47 authors.
Julian Rojas *Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0002-1317-1875
Carlos A Arango-Franco *Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0002-7404-0860
Marcela Moncada-VelezInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0002-3073-5345
Diana Marcela ArboledaInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0009-0005-4305-4863
Edgar Alfonso FigueredoInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0009-0000-0170-4294
Manuela MolinaInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0002-7795-7025
Juan Pablo SánchezInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0009-0000-9024-484X
Lina Marcela ZapataInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0009-0007-5901-9135
Paula Catalina DiazInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0009-0007-0346-4782
Jesús Armando ÁlvarezInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0002-1195-5158
Maria S Serna-ArbelaezInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0002-0862-1368
Lizet Jazmin Pérez ZapataInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0009-0002-4288-5532
Gabriel VélezInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0002-4859-1124
Camille SoudéeLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID https://orcid.org/0009-0002-1445-7223
Juan F AlzateNational Center for Genome Sequencing, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0003-2578-4609
Felipe CabarcasNational Center for Genome Sequencing, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0002-8966-0405
Catalina Obando GilInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0003-4826-5254
Carlos GarcésPablo Tobón Uribe Hospital, Medellín, Colombia.ORCID https://orcid.org/0000-0001-8861-4485
Martha I Alvarez-OlmosPedriatric Infectious Diseases, Fundacion Cardioinfantil, El Bosque University, Bogotá, Colombia.ORCID https://orcid.org/0000-0002-4952-613X
Paola Marcela Pérez-CamachoPediatric Allergology Service, Fundación Valle Del Lili, Cali, Colombia.ORCID https://orcid.org/0000-0003-1797-3485
Diego Medina-ValenciaPediatric Allergology Service, Fundación Valle Del Lili, Cali, Colombia.ORCID https://orcid.org/0000-0002-1465-7957
Jaime Alberto Patiño-NiñoPediatric Allergology Service, Fundación Valle Del Lili, Cali, Colombia.ORCID https://orcid.org/0000-0003-1022-3606
Juan Pablo RendónMedical and Experimental Mycology Group, Corporación para Investigaciones Biológicas, Medellin, Colombia.ORCID https://orcid.org/0000-0002-8115-230X
María Claudia Ortega-LópezHospital Infantil Universitario San José, Bogotá, Colombia.ORCID https://orcid.org/0000-0002-0644-6711
Luz Elena CanoMedical and Experimental Mycology Group, Corporación para Investigaciones Biológicas, Medellin, Colombia.ORCID https://orcid.org/0009-0007-3336-116X
Juan Francisco LópezPediatric Infectious Diseases, HOMI Misericordia Foundation Hospital, Bogota, Colombia.ORCID https://orcid.org/0000-0003-3175-1651
Flor Marcela EstupiñánPedriatic Hematopoietic Stem Cell Transplantation, HOMI Misericordia Foundation Hospital, Bogota, Colombia.ORCID https://orcid.org/0000-0002-9058-0197
Mauricio ChaparroPedriatic Hematopoietic Stem Cell Transplantation, HOMI Misericordia Foundation Hospital, Bogota, Colombia.ORCID https://orcid.org/0000-0003-1406-5801
Laura NiñoPedriatic Hematopoietic Stem Cell Transplantation, HOMI Misericordia Foundation Hospital, Bogota, Colombia.ORCID https://orcid.org/0009-0005-7773-8358
Andrés Felipe EscobarPedriatic Hematopoietic Stem Cell Transplantation, Pablo Tobón Uribe Hospital, Medellín, Colombia.ORCID https://orcid.org/0000-0001-9846-6615
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID https://orcid.org/0000-0002-7782-4169
Stéphanie Boisson-DupuisLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID https://orcid.org/0000-0002-7115-116X
Anne PuelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID https://orcid.org/0000-0003-2603-0323
Carlos OlmosCayro IPS, Bogotá, Colombia.ORCID https://orcid.org/0009-0004-5471-2350
Luis Miguel SosaPediatric Department, Industrial University of Santander, Bucaramanga, Colombia.ORCID https://orcid.org/0000-0002-0707-8404
Patrick Eliana Sarmiento-WilchesNationwide Children's Hospital, Columbus, OH, USA.ORCID https://orcid.org/0000-0002-8557-4534
César MuñozNapoleon Franco Pareja Children's Hospital, Cartagena, Colombia.ORCID https://orcid.org/0000-0003-2733-808X
Julio Cesar OrregoInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0002-3809-9187
Juan Álvaro LópezInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0003-0610-7602
Manuela Olaya-HernándezFundación Valle Del Lili, Cali, Colombia.ORCID https://orcid.org/0000-0002-3239-8928
Natalia BuilesPedriatic Hematopoietic Stem Cell Transplantation, Pablo Tobón Uribe Hospital, Medellín, Colombia.ORCID https://orcid.org/0000-0002-8918-0065
Estefanía Vásquez-EcheverriInborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0001-6747-5009
Natalia Vélez-TiradoPediatric Immunology, HOMI Fundación Hospital Pediátrico La Misericordia, Bogotá, Colombia.ORCID https://orcid.org/0000-0002-2936-3679
José Luis Franco *Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0001-5664-6415
Lina María Castaño-Jaramillo *Pediatric Immunology, HOMI Fundación Hospital Pediátrico La Misericordia, Bogotá, Colombia.ORCID https://orcid.org/0000-0003-1478-8401
Jacinta Bustamante *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.ORCID https://orcid.org/0000-0002-3439-2482
Andrés Augusto Arias *Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.ORCID https://orcid.org/0000-0002-9478-8403
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MPharmacology & ImmunoPathology (PIP) CoreU19AI162568 · NIAID · WEILL MEDICAL COLL OF CORNELL UNIV · PI DARTOIS, VERONIQUE · 2021 to 2025
$13.0MGenome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova · 2017 to 2026
$4.8MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR01AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI BUSTAMANTE, JACINTA, CASANOVA, JEAN-LAURENT · 2021 to 2025
$2.5MNCATS NIH HHS UL1 TR001866NIAID NIH HHS R01 AI095983NIAID NIH HHS R01 AI127564NIAID NIH HHS U19 AI162568
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:
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