ArticleClinical and experimental immunology2020
Late diagnosis of chronic granulomatous disease.
Article in Clinical and experimental immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2025Pooled it
- Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.The journal of gene medicine · 2026Article
- A case report of a patient with chronic granulomatous disease complicated by invasive aspergillosis and disseminatedFrontiers in medicine · 2026Article
- Review
- Perspectives on chronic granulomatous disease: results of a clinician survey.Frontiers in immunology · 2026Article
- First review of chronic granulomatous disease in Palestine: clinical and genetic characteristics.Frontiers in immunology · 2026Review
- The value of DHR-enzyme-linked immunosorbent assay in the diagnosis of chronic granulomatous disease by detecting NADPH oxidase complex activity.Frontiers in pediatrics · 2025Article
- An Adult-Onset Chronic Granulomatous Disease Case with Hemophagocytic Lymphohistiocytosis Caused byInfectious diseases & clinical microbiology · 2024Article
- Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.Journal of clinical medicine · 2024Review
- Chronic Granulomatous Disease (CGD): Commonly Associated Pathogens, Diagnosis and Treatment.Microorganisms · 2023Review
- Chronic granulomatous disease presenting at age 52 with fulminant mulch pneumonitis.The journal of allergy and clinical immunology. Global · 2022Article
- High Inborn Errors of Immunity Risk in Patients with Granuloma.Journal of clinical immunology · 2022Article
- Effects of voriconazole on population pharmacokinetics and optimization of the initial dose of tacrolimus in children with chronic granulomatous disease undergoing hematopoietic stem cell transplantation.Annals of translational medicine · 2021Article
- Late diagnosis and advances in genetics of chronic granulomatous disease.Clinical and experimental immunology · 2021Article
- Clinical & Experimental Immunology: Highlights of 2020.Clinical and experimental immunology · 2021Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Modern era advancements in medical care, with improved treatment of infections, can result in delayed diagnosis of congenital immunodeficiencies. In this study we present a retrospective cohort of 16 patients diagnosed with Chronic Granulomatous Disease (CGD) at adulthood. Some of the patients had a milder clinical phenotype, but others had a classic phenotype with severe infectious and inflammatory complications reflecting a profoundly impaired neutrophil function. It is therefore of great importance to investigate the individual journey of each patient through different misdiagnoses and the threads which led to the correct diagnosis. Currently the recommended definitive treatment for CGD is hematopoietic stem cell transplantation (HSCT). Although survival of our patients to adulthood might argue against the need for early HSCT during infancy, we claim that the opposite is correct, as most of them grew to be severely ill and diagnosed at a stage when HSCT is debatable with potentially an unfavorable outcome. This cohort stresses the need to increase awareness of this severe congenital immunodeficiency among clinicians of different specialties who might be treating undiagnosed adult patients with CGD.
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