ArticleClinical and experimental immunology2021
Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.
Article in Clinical and experimental immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The trial behind it
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Chronic granulomatous disease with suspected secondary hemophagocytic lymphohistiocytosis: a case report and hypothesis-generating rationale for neuroimmune modulation.Critical care (London, England) · 2026Review
- Misleading presentation of tuberculosis in a child with CGD revealing invasive aspergillosis: A molecularly confirmed case.IDCases · 2026Article
- Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy.Journal of clinical immunology · 2025Article
- Chronic granulomatous disease: lessons in cell biology from monogenic immunodeficiency.Clinical and experimental immunology · 2025Review
- Advancements in Immunology and Microbiology Research: A Comprehensive Exploration of Key Areas.Microorganisms · 2024Review
- Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment.Microorganisms · 2023Review
- Genetic screening in a Brazilian cohort with inborn errors of immunity.BMC genomic data · 2023Article
- CRISPR-gene-engineered CYBB knock-out PLB-985 cells, a useful model to study functional impact of X-linked chronic granulomatous disease mutations: application to the G412E X91+-CGD mutation.Clinical and experimental immunology · 2023Article
- Structure, Activation, and Regulation of NOX2: At the Crossroad between the Innate Immunity and Oxidative Stress-Mediated Pathologies.Antioxidants (Basel, Switzerland) · 2023Review
- Structure of the core human NADPH oxidase NOX2.Nature communications · 2022Article
- Cellular expression of epigenetic markers and oxidative stress in periodontitis lesions of smokers and non-smokers.Journal of periodontal research · 2022Article
- Variant Type X91Journal of clinical immunology · 2022Article
- Late diagnosis and advances in genetics of chronic granulomatous disease.Clinical and experimental immunology · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.Frontiers in immunology · 2021Article
Corrections and comments
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Authors and funding
30 authors at 12 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chronic granulomatous disease (CGD) is a rare inherited disorder in which phagocytes lack nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity. The most common form is the X-linked CGD (X91-CGD), caused by mutations in the CYBB gene. Clinical, functional and genetic characterizations of 16 CGD cases of male patients and their relatives were performed. We classified them as suffering from different variants of CGD (X91
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