ArticleAmerican journal of respiratory and critical care medicine2017
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.
Article in American journal of respiratory and critical care medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 2 of them syntheses that pooled it.
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Who cites it
59 citing papers in PubMed, 2 syntheses or guidelines pooled it, 129 citations in OpenAlex.
- The Diagnosis of Primary Ciliary Dyskinesia: Putting The European Respiratory/American Thoracic Guideline Into Practice.Pediatric pulmonology · 2026Guideline
- European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia.The European respiratory journal · 2025Guideline
- Structural and functional characterization of DNAH5 variants in a Portuguese family with primary ciliary dyskinesia.Journal of assisted reproduction and genetics · 2026Article
- Utilising human cellular models of primary ciliary dyskinesia: a scoping review.European respiratory review : an official journal of the European Respiratory Society · 2026Article
- Article
- A goat-derived gamma-tubulin antibody for triple-channel imaging of primary cilia.BMC molecular and cell biology · 2026Article
- Unrecognized ciliary motility disorders in neutrophilic severe asthma exacerbations.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026Article
- An international collaborative initiative to screen primary ciliary dyskinesia with high-speed video microscopy and nasal nitric oxide at a tertiary referral centre in South India.Lung India : official organ of Indian Chest Society · 2026Article
- Patients' research priorities and participation in primary ciliary dyskinesia research.BMJ open respiratory research · 2025Article
- Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.Molecular diagnosis & therapy · 2025Article
- Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- Primary Ciliary Dyskinesia-Current Diagnostic and Therapeutic Approach.Journal of clinical medicine · 2025Review
- Article
- CFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures.International journal of molecular sciences · 2025Article
- Article
- Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals.Journal of clinical medicine · 2025Article
- Empowering limited-resource countries: collaborating with expert centers for diagnosis of primary ciliary dyskinesia.Frontiers in molecular biosciences · 2025Article
- Spatiotemporal dynamics of primary and motile cilia throughout lung development.bioRxiv : the preprint server for biology · 2024Article
- Primary Ciliary Dyskinesia: A Clinical Review.Cells · 2024Review
- Primary Ciliary Dyskinesia.Pediatrics · 2024Review
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
rationaleThe standard approach to diagnosis of primary ciliary dyskinesia (PCD) in the United Kingdom consists of assessing ciliary function by high-speed microscopy and ultrastructure by election microscopy, but equipment and expertise is not widely available internationally. The identification of biallelic disease-causing mutations is also diagnostic, but many disease-causing genes are unknown, and testing is not widely available outside the United States. Fluorescent antibodies to ciliary proteins are used to validate research genetic studies, but diagnostic utility in this disease has not been systematically evaluated.
objectivesTo determine utility of a panel of six fluorescent labeled antibodies as a diagnostic tool for PCD.
methodsThe study used immunofluorescent labeling of nasal brushings from a discovery cohort of 35 patients diagnosed with PCD by ciliary ultrastructure, and a diagnostic accuracy cohort of 386 patients referred with symptoms suggestive of disease. The results were compared with diagnostic outcome. MEASUREMENTS AND MAIN
resultsImmunofluorescence correctly identified mislocalized or absent staining in 100% of the discovery cohort. In the diagnostic cohort immunofluorescence successfully identified 22 of 25 patients with PCD and normal staining in all 252 in whom PCD was considered highly unlikely. In addition, immunofluorescence provided a result in 55% (39) of cases that were previously inconclusive. Immunofluorescence results were available within 14 days, costing $187 per sample compared with electron microscopy (27 days; cost $1,452).
conclusionsImmunofluorescence is a highly specific diagnostic test for PCD, and it improves the speed and availability of diagnostic testing. However, sensitivity is limited and immunofluorescence is not suitable as a stand-alone test.
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