ArticleFrontiers in pediatrics2022
Case report: Chronic granulomatous disease presenting with early-onset inflammatory bowel disease and normal oxidative burst testing.
Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- Identification of potential autophagy inducers through high-throughput and high-content imaging analysis.Molecular pharmacology · 2026Article
- Clinical presentation, diagnosis, and treatment of chronic granulomatous disease.Frontiers in pediatrics · 2024Review
- Inborn Errors of Immunity and Efforts to Diagnose Affected Children in the Absence of Training and Specialty Practice in Clinical Immunology in Ethiopia: a Brief Report.Journal of clinical immunology · 2023Article
- Genetically confirmed chronic granulomatous disease in a Kenyan child: case report.Frontiers in immunology · 2023Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Due to the lack of widespread availability of flow cytometry services for immunodeficiency, nitroblue tetrazolium test (NBT) is the commonly used screening modality to identify patients with chronic granulomatous disease (CGD) in developing countries. Procedure: We report a child with X-linked CGD with residual NADPH oxidase activity who had an indeterminate NBT result even in the presence of classical manifestations of CGD. Results: A 7-year-old boy presented with recurrent episodes of inflammatory colitis and Conclusion: Our case highlights that early-onset inflammatory bowel disease can be a presenting manifestation of CGD and diagnosis of CGD can be missed if NBT alone is used for screening, especially in the presence of NADPH oxidase activity. Diagnosis of "CGD with residual NADPH oxidase activity" requires a high degree of clinical suspicion, and performing DHR with different stimulants can unravel the diagnosis.
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