ArticleEuropean journal of human genetics : EJHG2013
Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02980302 (Development of the Tool " iPSC "), which is not on this map. Cited by 17 papers.
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The trial behind it
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Development of the Tool " iPSC " (Induced Pluripotent Stem Cells) for the Functional Study of Mutations Responsible for Mental Retardation - Application to Familial Study of MYT1L Gene Mutations
Who cites it
17 citing papers in PubMed, 20 citations in OpenAlex.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Occurrence of Emphysema in Individuals With Williams-Beuren Syndrome: A Narrative Review.CHEST pulmonary · 2025Article
- 2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.Journal of clinical immunology · 2024Article
- Evaluation of immunological abnormalities in patients with rare syndromes.Central-European journal of immunology · 2022Article
- 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
- Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.Frontiers in immunology · 2021Article
- Do microdeletions lead to immune deficiency?Central-European journal of immunology · 2020Article
- Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.Molecular & cellular proteomics : MCP · 2019Article
- Dental-craniofacial manifestation and treatment of rare diseases.International journal of oral science · 2019Review
- Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation.Frontiers in genetics · 2018Article
- NADPH Oxidase Deficiency: A Multisystem Approach.Oxidative medicine and cellular longevity · 2017Review
- Genetic disorders coupled to ROS deficiency.Redox biology · 2015Review
- NOX2 As a Target for Drug Development: Indications, Possible Complications, and Progress.Antioxidants & redox signaling · 2015Review
- 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
- Neutrophils at work.Nature immunology · 2014Review
- Molecular diagnosis of chronic granulomatous disease.Clinical and experimental immunology · 2014Review
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder with multi-systemic manifestations, caused by a heterozygous segmental deletion of 1.55-1.83 Mb at chromosomal band 7q11.23. The deletion can include the NCF1 gene that encodes the p47(phox) protein, a component of the leukocyte NADPH oxidase enzyme, which is essential for the defense against microbial pathogens. It has been postulated that WBS patients with two functional NCF1 genes are more susceptible to occurrence of hypertension than WBS patients with only one functional NCF1 gene. We now describe two extremely rare WBS patients without any functional NCF1 gene, because of a mutation in NCF1 on the allele not carrying the NCF1-removing WBS deletion. These two patients suffer from chronic granulomatous disease with increased microbial infections in addition to WBS. Interestingly, one of these patients did suffer from hypertension, indicating that other factors than NADPH oxidase in vascular tissue may be involved in causing hypertension.
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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.