Cited by 212Immunodeficiency and Autoimmune DisordersNeutrophil, Myeloperoxidase and Oxidative MechanismsBlood disorders and treatments

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Chronic granulomatous disease

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Roos, Dirk·2016·British Medical Bulletin

DOI 10.1093/bmb/ldw009PMC PMC5127417

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Abstract

INTRODUCTION: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, the liver, the brain and the bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia, Serratia marcescens and Salmonella species. SOURCES OF DATA: CGD is a rare (∼1:250 000 individuals) disease caused by mutations in any one of the five components of the NADPH oxidase in phagocytic leucocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes. AREAS OF AGREEMENT: CGD patients suffer not only from life-threatening infections, but also from excessive inflammatory reactions. AREAS OF CONTROVERSY: Neither the cause of these inflammatory reactions nor the way to treat them is clear. AREAS TIMELY FOR DEVELOPING RESEARCH: Patient selection for and timing of bone marrow transplantation along with gene therapy.

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Roos D , Holland SM , Kuijpers TW . Chronic granulomatous disease. In: Ochs HD , Smith CIE , Puck JM (eds). Primary Immunodeficiency Diseases, A Molecular and Genetic Approach 3rd ed. New York: Oxford University Press, 2014,689–722.

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Mold infections in chronic granulomatous disease patients—what comes to the rescue?
von Bernuth, H., & Güngör, T. (2024) · Bone Marrow Transplantation · doi:10.1038/s41409-024-02342-y · Cited by 1
“Reactive oxygen intermediates are required to kill intracellular pathogens and to abrogate pro-in ﬂ ammatory processes [7].”
“Diffuse Bronchiectasis of Genetic Origin”
Lucas, J. S., & Pike, K. C. (2014) · Springer eBooks · doi:10.1007/978-1-4471-2401-6_4
Chronic Granulomatous Disease: A Study of Two Cases with Fungal Infection in Early Infancy
Karbasian, F., Khanbabaei, G., Armin, S., Mesdaghi, M., Zafari, A., Shahrbabaki, Z. S., & Chavoshzadeh, Z. (2018) · Pediatric Allergy Immunology and Pulmonology · doi:10.1089/ped.2017.0800
Légzőszervi megbetegedések primer immundefektusokban
Nyúl, Z. (2018) · Orvosi Hetilap · doi:10.1556/650.2018.31268
Overview of Neuroimmunology
Liu, H., Li, L., & Li, H. (2019) · Springer eBooks · doi:10.1007/978-981-13-6904-9_14
A 9-Year-Old Male With Generalized Lymphadenopathy and Granulomatous Inflammation
Ditchek, L., Suryadevara, M., & Wali, P. D. (2019) · Clinical Pediatrics · doi:10.1177/0009922819859430
Constrictive Aspergillosis Pericarditis
Karaca, N. E., Aksu, G., & Kütükçüler, N. (2019) · Springer eBooks · doi:10.1007/978-3-030-21262-9_65
Rescue Ebola Patients in silicoPreprint
Zhao, G., Binder, S. C., Pongratz, G., & Meyer‐Hermann, M. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.02.08.939777
Host adaptations in the fixLJ pathway of the Burkholderia cepacia complex increase virulencePreprint
Schaefers, M. M., Wang, B. X., Boisvert, N. M., Martini, S. J., Bonney, S. L., Marshall, C. W., Laub, M. T., Cooper, V. S., & Priebe, G. P. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.05.04.070367
X‐linked chronic granulomatous disease misdiagnosed as non‐Langerhans cell histiocytosis: A case report
Tang, X., Guo, X. N., Gao, J., & Sun, J. (2020) · Scandinavian Journal of Immunology · doi:10.1111/sji.12948
Mucosal Immunity in Primary Immunodeficiencies
Troilo, A., Camacho-Ordóñez, N., Bella, C. D., & D’Elios, M. M. (2021) · Rare diseases of the immune system · doi:10.1007/978-3-030-70107-9_5
Pediatric Lymphoma and Abnormalities Affecting the Pediatric Thymus: Pathology
Ngan, B., & Tanaka, Y. (2021) · Springer eBooks · doi:10.1007/978-3-030-59265-3_25
Update: Primary immunodeficiency disorders among north Indian children
Deepak, R. K., Kumar, P., Saurabh, A., Bagri, N. K., & Verma, S. (2021) · Indian Journal of Pathology and Oncology · doi:10.18231/j.ijpo.2021.097
Immunogenetics: the developmental course
Muzaffer, U., Ali, S. I., Paul, V. I., & Sheikh, W. M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-90053-9.00002-6
A serpiginous lesion of scrotum
Romano, S., Dall’Amico, R., Declich, V., & Barbi, E. (2022) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-022-01224-7
A Child with Massive Pericardial and Pleural Effusion and Chronic Granulomatous Disease
Tabatabaei, S. R., Karimi, A., Zamani, A., Khalilian, M. R., Sadr, S., Nazari, T., & Shirvani, F. (2022) · Archives of Pediatric Infectious Diseases · doi:10.5812/pedinfect-118095
Granulocytic Disorders
Naeim, F., Rao, P. N., Song, S. X., & Phan, R. T. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-809843-1.00063-2
CYBB X-Linked Chronic Granulomatous Disease (CGD)
Condino‐Neto, A., & Newburger, P. E. (2018) · Springer eBooks · doi:10.1007/978-1-4614-9209-2_148-1
Faculty Opinions recommendation of Inherited p40phox deficiency differs from classic chronic granulomatous disease.
Lionakis, M. S. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.733574909.793572026
CYBB X-Linked Chronic Granulomatous Disease (CGD)
Condino‐Neto, A., & Newburger, P. E. (2020) · Springer eBooks · doi:10.1007/978-1-4614-8678-7_148
Lovebird-induced Aspergillus Infection in a Child with Chronic Granulomatous Disease
Aydoğmuş, Ç., Nursoy, H., Yavuz, S., Gülmez, A., & Kömeç, S. (2022) · Cam and Sakura Medical Journal · doi:10.4274/csmedj.galenos.2022.2022-1-1
Infections in the immunocompromised host and immunization
Bindayna, K. M., & Alsalman, J. (2023) · Elsevier eBooks · doi:10.1016/b978-0-323-95092-3.00003-2
A Fatal Case of Chronic Granulomatous Disease in a Young Man
Ho, N. H. H., Patel, S., & Pathak, P. (2023) · Cureus · doi:10.7759/cureus.40266
“It affects about one in 250,000 individuals annually due to a defect in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme in phagocytes [2].”
Prevalence of the hematopoietic rare genetic diseases in Türkiye: A retrospective study
Ülgü, M., Yilmaz, S., Öztaş, D., Göktaş, B., & Akünal, A. (2024) · Transfusion Clinique et Biologique · doi:10.1016/j.tracli.2024.01.005
A nox2 / cybb zebrafish mutant with defective neutrophil ROS production displays normal initial neutrophil recruitment to sterile tail injuriesPreprint
Isiaku, A. I., Zhang, Z., Pazhakh, V., & Lieschke, G. J. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.02.02.578645
Mucosal Immunity in Primary Immunodeficiencies
D’Elios, S., Benagiano, M., Asvestopoulou, E., D’Elios, M. M., & Bella, C. D. (2024) · Rare diseases of the immune system · doi:10.1007/978-3-031-78864-2_1
Editorial: Reviews in pediatric primary immunodeficiencies
Kılıç, S. Ş. (2025) · Frontiers in Pediatrics · doi:10.3389/fped.2025.1588443
“Chronic granulomatous disease (CGD) primarily results from inherited defects in components of the nicotinamide adenine dinucleotide phosphate oxidase enzyme complex (5).”
Skin Manifestations of Adult-Onset Immunodeficiencies
Menard, S., Gniadecki, R., & Osman, M. S. (2025) · Springer eBooks · doi:10.1007/978-3-031-65292-9_16
Distinct molecular characteristics and virulence profiles of carbapenem-resistant Acinetobacter baumannii , Escherichia coli , and Enterobacter cloacae isolated from patients with inborn errors of immunity
Zhu, X., Fu, P., Yang, S.-Z., Wang, W., Ying, W., Sun, B., Sun, J., Wang, C., Zhou, Q., & Wang, X. (2025) · Microbiology Spectrum · doi:10.1128/spectrum.00281-25
“Antimicrobial resistance in the CR-ECO and CR-ECL isolates from patients with IEI was particularly notable for TMP-SMX, which may be explained by the frequent use of this drug in CGD patients for the treatment and prevention of Pneumocystis pneumonia (24).”
Inflammatory Lesions of the Scalp and Calvarium
Silas, S., Mangla, R., Fuller, C. E., & Krishnamurthy, S. (2025) · Springer eBooks · doi:10.1007/978-3-031-88244-9_19
Necrotizing ulcerative stomatitis following bone marrow transplantation in a patient with chronic granulomatous disease: Case report
Alabdulaaly, L., Lucas, C. M., Prockop, S. E., Schmidt, B. A. R., Treister, N. S., & Sroussi, H. (2025) · Clinical Advances in Periodontics · doi:10.1002/cap.10363
Erreurs innées de la réponse immunitaire (EII)
Stephan, J. (2025) · EMC - Pédiatrie - Maladies infectieuses · doi:10.1016/s1637-5017(25)47822-3
EROS protein: Decoding its pivotal role in redox homeostasis and disease pathogenesis
Liang, S., Zhou, Y., Ren, W., Xu, Y., Tang, M., Su, Y., Li, L., & Gao, M. (2025) · Advances in Redox Research · doi:10.1016/j.arres.2025.100147
X-linked chronic granulomatous disease combined with disseminated nontuberculous mycobacteria and fungal infections: Diagnosis and treatment analysis
Huang, W., He, Y.-L., Zhan, L., & Shi, X. (2025) · Medicine · doi:10.1097/md.0000000000046453
“[10] In some countries like India and China, pulmonary infections with Aspergillus and M tuberculosis are frequently reported among X-CGD patients.”
Case Report: A case of Salmonella spondylitis masquerading as tuberculosis in a child
Guo, S., & Zhu, Y. (2026) · Frontiers in Medicine · doi:10.3389/fmed.2025.1754318
“This defect limits superoxide production, impairing the ability of phagocytes to kill pathogens intracellularly and leading to increased risk of infection dissemination (11).”
Errores innatos de la inmunidad (EII)
Stéphan, J.-L. (2026) · EMC - Pediatría · doi:10.1016/s1245-1789(25)51332-x

Authors: Roos, D.
Affiliations: Amsterdam UMC Location University of Amsterdam (NL)
Corresponding author: Roos, Dirk
ORCID: Roos, Dirk
Venue: British Medical Bulletin
Publisher: Oxford University Press (OUP)
Published: 2016-03-16
Volume: 118
Issue: 1
Pages: 50-63
ISSN: 0007-1420 (ISSN-L)
1471-8391
DOI: 10.1093/bmb/ldw009
PMC: PMC5127417
OpenAlex: W2305820599
Cited by: 212
References: 76
Citations by year: 2026: 9 · 2025: 17 · 2024: 16 · 2023: 20 · 2022: 19 · 2021: 30 · 2020: 25 · 2019: 30 · 2018: 21 · 2017: 18 · 2016: 4
FWCI: 2.34
Type: journal article
Language: en
Open access: green
europepmc.org
Locations: British Medical Bulletin (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
HighWire Press Open Archive (submittedVersion)
Topics: Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
Life Sciences › Immunology and Microbiology › Immunology › Neutrophil, Myeloperoxidase and Oxidative Mechanisms
Health Sciences › Medicine › Hematology › Blood disorders and treatments
Keywords: chronic granulomatous disease, primary immunodeficiency, NADPH oxidase, superoxide, phagocytes, bacterial and fungal infections, Staphylococcus aureus, Aspergillus, Burkholderia cepacia, Klebsiella, Serratia marcescens, Salmonella, inflammation, bone marrow transplantation, gene therapy
MeSH terms: Bacterial Infections, Granulomatous Disease, Chronic, Humans, Mutation, Mycoses, Phagocytes, Genetic Therapy, Bone Marrow Transplantation, NADPH Oxidases, Genetic Predisposition to Disease, Molecular Diagnostic Techniques

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