ArticleJournal of clinical immunology2019
Clinical and Molecular Features of Chronic Granulomatous Disease in Mainland China and a XL-CGD Female Infant Patient After Prenatal Diagnosis.
Article in Journal of clinical immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.The journal of gene medicine · 2026Article
- Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy.Journal of clinical immunology · 2025Article
- Description of invasive aspergillosis in Mexican patients with chronic granulomatous disease.Journal of human immunity · 2025Article
- X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.Journal of clinical immunology · 2025Article
- Two distinct clinical progressions of P67phox-deficient CGD, both commencing with cervical lymphadenitis.Italian journal of pediatrics · 2024Article
- X-linked chronic granulomatous disease secondary to skewed X-chromosome inactivation in female patients.Clinical and experimental immunology · 2024Article
- Inborn errors of immunity in mainland China: the past, present and future.BMJ paediatrics open · 2023Review
- Review
- Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.Frontiers in immunology · 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
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeChronic granulomatous disease (CGD) is the most common phagocyte defect disease. Here, we describe 114 CGD patients in our center and report a rare female infant with XL-CGD to provide a better understanding of diagnosis, treatment, and prenatal diagnosis of CGD.
methodPatients were diagnosed by DHR-1,2,3 flow cytometry assays and gene analysis. X chromosome inactivation analysis and gp91
resultsXL-CGD accounts for the majority of cases in China and results in higher susceptibility to some infections than AR-CGD. The DHR assay can help diagnose CGD quickly, and atypical results should be combined with clinical manifestations, genetic analysis, and regular follow-up. For prenatal diagnosis, both gDNA and cDNA genotypes of amniotic fluid cells should be identified, and cord blood DHR assays should be performed to identify female XL-CGD patients.
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