ArticleJournal of clinical immunology2014
Clinical and molecular features of 38 children with chronic granulomatous disease in mainland china.
Article in Journal of clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Evolution of Inborn Errors of Immunity in China: Discoveries and Treatment Paradigms.Clinical reviews in allergy & immunology · 2026Review
- 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
- Inborn errors of immunity in mainland China: the past, present and future.BMJ paediatrics open · 2023Review
- Gastrointestinal symptoms as the first sign of chronic granulomatous disease in a neonate: A case report.World journal of clinical cases · 2021Article
- Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.Frontiers in immunology · 2021Article
- Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis.Journal of clinical immunology · 2019Article
- Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2019Article
- Serum Biomarkers for Early Diagnosis of Chinese X-CGD Children: Case Reports and a Literature Review.Current medical science · 2019Article
- Genetic and Clinical Profiles of Disseminated Bacillus Calmette-Guérin Disease and Chronic Granulomatous Disease in China.Frontiers in immunology · 2019Observational
- A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017).Journal of clinical immunology · 2018Article
- Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India.Journal of clinical immunology · 2017Article
- Recent advances in understanding and treating chronic granulomatous disease.F1000Research · 2017Review
- Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.Journal of immunology research · 2017Review
- Review
Corrections and comments
- Erratum issued
Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeChronic granulomatous disease (CGD) is an inherited disorder, with phagocytes failing to produce antimicrobial superoxide due to deficient NADPH oxidase activity. Mutations in the gene encoding CYBB are responsible for the majority of the CGD cases. To date, there have been no reports on large samples of children with CGD in China. Therefore, in this study, we described the clinical and molecular features of 38 suspected CGD patients from 36 unrelated Chinese families.
methodsClinical diagnosis was performed using dihydrorhodamine assays detected by flow cytometry. Molecular analysis was used to identify underlying CGD-causative genes.
resultsThe mean age of onset in our 38 patients was 3.4 months, while the mean age at diagnosis was 31.7 months. Apart from recurrent pneumonia and abscesses, tuberculosis (TB) and Bacille Calmette-Guerin (BCG) infections were notable features in our cohort. Overall, 17 cases died and patient 1 did not participate in the follow-up period . In total, we identified 29 different CYBB gene mutations in 31 patients. We found NCF1 and CYBA mutations in 3 and 2 patients, respectively. In addition, we identified 31 carriers and prenatally diagnosed 4 CGD and 4 healthy fetuses.
conclusionsThe results of our study demonstrate that children with BCG infections or recurrent TB infections should have immune function screening tests performed. Moreover, newborns with family histories of primary immunodeficiency diseases should avoid of BCG vaccination. Molecular analysis is an important tool for identifying patients, carriers, and high-risk CGD fetuses.
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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.