ReviewBlood cells, molecules & diseases2010
Hematologically important mutations: X-linked chronic granulomatous disease (third update).
Review in Blood cells, molecules & diseases, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
113 citing papers in PubMed, 198 citations in OpenAlex.
- Trial
- Balancing automation and expertise: real-world evaluation of AI-assisted whole-exome sequencing in lupus-causing genes.Lupus science & medicine · 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
- Concurrent Burkholderia cepacia detected by plasma mcfDNA sequencing in a child with MRSA liver abscess and chronic granulomatous disease: a case report.BMC pediatrics · 2026Article
- SDrecall: a sensitive approach for variant detection in segmental duplications.Genome biology · 2026Article
- RAC2 orchestrates immune cell actin remodeling and migration.Frontiers in immunology · 2026Review
- Case Report: First report of a novel homozygous nonsense mutation in theFrontiers in immunology · 2026Article
- 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
- Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.Frontiers in immunology · 2025Article
- Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospitalBiomedica : revista del Instituto Nacional de Salud · 2024Article
- A Mouse Model of X-Linked Chronic Granulomatous Disease for the Development of CRISPR/Cas9 Gene Therapy.Genes · 2024Article
- Chronic Granulomatous Disease: a Cohort of 173 Patients-10-Years Single Center Experience from Egypt.Journal of clinical immunology · 2023Article
- Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment.Microorganisms · 2023Review
- Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients.Italian journal of pediatrics · 2023Article
- Article
- A predicted structure of NADPH Oxidase 1 identifies key components of ROS generation and strategies for inhibition.PloS one · 2023Article
- Genetically confirmed chronic granulomatous disease in a Kenyan child: case report.Frontiers in immunology · 2023Article
- Structure of the core human NADPH oxidase NOX2.Nature communications · 2022Article
- A CRISPR view of hematopoietic stem cells: Moving innovative bioengineering into the clinic.American journal of hematology · 2022Review
53 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
26 authors at 16 institutions in 12 countries.
Funding
Abstract
Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide is used to kill phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91-phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients. This article lists all mutations identified in CYBB in the X-linked form of CGD. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of future disease-causing mutations.
Indexed as
Identifiers
What OpenQuestion holds
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.