ArticleClinical and molecular allergy : CMA2011
Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review.
Article in Clinical and molecular allergy : CMA, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 37 citations in OpenAlex.
- Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.Frontiers in immunology · 2025Article
- Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.Journal of clinical medicine · 2024Review
- Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma.Frontiers in genetics · 2023Article
- Chronic granulomatous disease and McLeod syndrome: Stem cell transplant and transfusion support in a 2-year-old patient-a case report.Frontiers in immunology · 2022Article
- Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series.Journal of clinical immunology · 2020Article
- The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.Molecular vision · 2019Article
- Allogeneic Hematopoietic Cell Transplantation for Chronic Granulomatous Disease: Controversies and State of the Art.Journal of the Pediatric Infectious Diseases Society · 2018Review
- Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease.Journal of the Pediatric Infectious Diseases Society · 2018Review
- Article
- NADPH Oxidase Deficiency: A Multisystem Approach.Oxidative medicine and cellular longevity · 2017Review
- Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2016Article
- The first report of a Chinese family with McLeod syndrome.BMJ case reports · 2014Article
- Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds.Journal of clinical immunology · 2014Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chronic Granulomatous Disease (CGD), a disorder of the NADPH oxidase system, results in phagocyte functional defects and subsequent infections with bacterial and fungal pathogens (such as Aspergillus species and Candida albicans). Deletions and missense, frameshift, or nonsense mutations in the gp91phox gene (also termed CYBB), located in the Xp21.1 region of the X chromosome, are associated with the most common form of CGD. When larger X-chromosomal deletions occur, including the XK gene deletion, a so-called "Contiguous Gene Deletion Syndrome" may result. The contiguous gene deletion syndrome is known to associate the Kell phenotype/McLeod syndrome with diseases such as X-linked chronic granulomatous disease, Duchenne muscular dystrophy, and X-linked retinitis pigmentosa. These patients are often complicated and management requires special attention to the various facets of the syndrome.
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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.