ArticleJournal of clinical immunology2009
First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.
Article in Journal of clinical immunology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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.
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Who cites it
21 citing papers in PubMed, 41 citations in OpenAlex.
- Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients.Journal of human immunity · 2026Article
- The type 1 and type 3 immune responses underlying the tissue inflammation associated with NOX2 deficiency.Frontiers in immunology · 2026Review
- Reliable genetic diagnosis ofFrontiers in immunology · 2025Article
- Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India.Journal of clinical immunology · 2023Review
- Variant Type X91Journal of clinical immunology · 2022Article
- Liver Abscess in Chronic Granulomatous Disease-Two Decades of Experience from a Tertiary Care Centre in North-West India.Journal of clinical immunology · 2021Review
- Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.Clinical and experimental immunology · 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
- A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review.Molecular genetics & genomic medicine · 2020Review
- A novel mutation inRespiratory medicine case reports · 2020Article
- Article
- Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience.Journal of clinical immunology · 2016Article
- Review
- Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X(0)-Linked, AR22(0)- and AR47(0)- Chronic Granulomatous Diseases.BioResearch open access · 2014Article
- Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.Journal of clinical immunology · 2012Article
- Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases.The Journal of infection · 2012Review
- Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease.Journal of clinical immunology · 2011Article
- Hematologically important mutations: X-linked chronic granulomatous disease (third update).Blood cells, molecules & diseases · 2010Review
- Molecular basis of autosomal recessive chronic granulomatous disease in iran.Journal of clinical immunology · 2010Article
- Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).Blood cells, molecules & diseases · 2010Review
Corrections and comments
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Authors and funding
11 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionChronic granulomatous disease is a rare inherited immunodeficiency syndrome caused by mutations in four genes encoding essential nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex components. MATERIAL AND
methodsClinical, functional, and molecular investigations were conducted in 15 Jordanian CGD patients from nine families. RESULTS AND DISCUSSION: Fourteen patients were children of consanguineous parents and suffered from autosomal recessive (AR) CGD forms with mutations in the CYBA, NCF1, and NCF2 genes encoding p22phox, p47phox, and p67phox proteins, except for one patient in whom the mutation's location was not found. One patient had an extremely rare X(+)CGD subtype resulting from a novel missense mutation (G1234C) in exon 10 of CYBB. We found a genetic heterogeneity in the Jordanian families with a high frequency of rare ARCGD, probably because consanguineous marriages are common in Jordan. No clear correlation between the severity of the clinical symptoms and the CGD types could be established.
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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.