ArticlePediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology2019
Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.
Article in Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 36 citations in OpenAlex.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients.Journal of human immunity · 2026Article
- Chronic granulomatous disease secondary to a rare compound heterozygote mutation in an adolescent cured by hematopoietic stem cell transplantation: a case report.Frontiers in pediatrics · 2026Article
- First review of chronic granulomatous disease in Palestine: clinical and genetic characteristics.Frontiers in immunology · 2026Review
- Case Report: First report of a novel homozygous nonsense mutation in theFrontiers in immunology · 2026Article
- Article
- 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
- Invasive Mould Infections in Chronic Granulomatous Disease: A Multicenter Study From Türkiye.Mycoses · 2025Article
- Chronic granulomatous disease: lessons in cell biology from monogenic immunodeficiency.Clinical and experimental immunology · 2025Review
- 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
- Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center.Frontiers in immunology · 2023Article
- The Multiple Faces of Nitric Oxide in Chronic Granulomatous Disease: A Comprehensive Update.Biomedicines · 2022Review
- Variant Type X91Journal of clinical immunology · 2022Article
- Overlapping infection of Nocardia farcinica and Aspergillus fumigatus in a child with X-linked chronic granulomatous disease: a case report.BMC infectious diseases · 2022Article
- Case report: Chronic granulomatous disease presenting with early-onset inflammatory bowel disease and normal oxidative burst testing.Frontiers in pediatrics · 2022Article
- Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience.Journal of clinical immunology · 2021Article
- Liver Abscess in Chronic Granulomatous Disease-Two Decades of Experience from a Tertiary Care Centre in North-West India.Journal of clinical immunology · 2021Review
- Infection Due to Serratia sp. in Chronic Granulomatous Disease-Is the Incidence Low in Tropical Countries?Journal of clinical immunology · 2021Article
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Authors and funding
15 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundChronic granulomatous disease (CGD) is a rare disease in China, and very little large-scale studies have been conducted to date. We aimed to investigate the clinical and genetic features of CGD in Chinese pediatric patients.
methodsPediatric patients with CGD from Beijing Children's Hospital, Capital Medical University, China, were enrolled from January 2006 to December 2016.
resultsA total of 159 pediatric patients with CGD were enrolled. The median age of clinical onset was 1.4 months, and 73% (116/159) had clinical onset symptoms before the 1 year of age. The most common site of invasion was the lungs. The lymph nodes, liver, and skin were more frequently invaded in X-linked (XL) CGD patients than in autosomal recessive (AR) CGD patients (P < 0.05). Approximately 64% (92/144) of the pediatric patients suffered from abnormal response to BCG vaccination. The most frequent pathogens were Aspergillus and Mycobacterium tuberculosis. Gene analysis indicated that 132 cases (89%, 132/147) harbored CYBB pathogenic variants, 7 (5%, 7/147) carried CYBA pathogenic variants, 4 (3%, 4/147) had NCF1 pathogenic variants, and 4 (3%, 4/147) had NCF2 pathogenic variants. The overall mortality rate in this study was 43%, particularly the patients were males, with CYBB mutant and did not receive HSCT treatment.
conclusionsChronic granulomatous disease is a rare disease affecting Chinese children; however, it is often diagnosed at a later age, and thus, the mortality rate is relatively high. The prevalence and the severity of disease in XL-CGD are higher than AR-CGD.
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