ReviewClinical and experimental immunology2014
Molecular diagnosis of chronic granulomatous disease.
Review in Clinical and experimental immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
73 citing papers in PubMed, 152 citations in OpenAlex.
- Chronic granulomatous disease: A multicenter study from the MENA region.Journal of human immunity · 2026Article
- Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort.International journal of molecular sciences · 2026Article
- Tuberculosis screening in adult patients with inborn errors of immunity: a single-center cohort study.Frontiers in immunology · 2026Article
- Neonatal-Onset Chronic Granulomatous Disease Presenting With Recurrent Culture-Negative Meningitis: A Case Report and Diagnostic Considerations.Case reports in immunology · 2026Article
- The Spectrum of Bacterial Infection in a Large Cohort of Chinese Pediatric Patients with Inborn Errors of Immunity: A Nine-year, Retrospective, Single-center Study.Journal of clinical immunology · 2025Article
- Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients.Journal of human immunity · 2025Article
- Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy.Journal of clinical immunology · 2025Article
- Osteomyelitis with a Pathologic Fracture, Mortal Liver Abscess, and Cholelithiasis: Distinct Features in two Families with the Same p47-phox Mutation.Turkish archives of pediatrics · 2025Article
- Invasive Mould Infections in Chronic Granulomatous Disease: A Multicenter Study From Türkiye.Mycoses · 2025Article
- Standardization of the use of opsonized zymosan as stimulus in the 1,2,3-dihydrorhodamine technique for the assessment of neutrophil respiratory burstBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Review
- Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.Journal of clinical medicine · 2024Review
- Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.Journal of clinical immunology · 2023Article
- Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment.Microorganisms · 2023Review
- Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.Journal of clinical immunology · 2023Article
- Utility of Immunohistochemistry and Immunofluorescence in Determining the Pathogenic Variants of Chronic Granulomatous Disease.Journal of clinical immunology · 2022Article
- Chronic Granulomatous Disease: a Comprehensive Review.Clinical reviews in allergy & immunology · 2021Review
- Mycobacterial diseases in patients with inborn errors of immunity.Current opinion in immunology · 2021Review
- The effects of neutrophil-generated hypochlorous acid and other hypohalous acids on host and pathogens.Cellular and molecular life sciences : CMLS · 2021Review
- Novel NCF2 Mutation Causing Chronic Granulomatous Disease.Journal of clinical immunology · 2020Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patients with chronic granulomatous disease (CGD) suffer from recurrent, life-threatening bacterial and fungal infections of the skin, the airways, the lymph nodes, liver, brain and bones. Frequently found pathogens are Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia and Salmonella species. CGD is a rare (∼1:250 000 births) disease caused by mutations in any one of the five components of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. This enzyme generates superoxide and is essential for intracellular killing of pathogens by phagocytes. Molecular diagnosis of CGD involves measuring NADPH oxidase activity in phagocytes, measuring protein expression of NADPH oxidase components and mutation analysis of genes encoding these components. Residual oxidase activity is important to know for estimation of the clinical course and the chance of survival of the patient. Mutation analysis is mandatory for genetic counselling and prenatal diagnosis. This review summarizes the different assays available for the diagnosis of CGD, the precautions to be taken for correct measurements, the flow diagram to be followed, the assays for confirmation of the diagnosis and the determinations for carrier detection and prenatal diagnosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.