ArticleJournal of inherited metabolic disease2009
Leukocyte perturbation associated with Fabry disease.
Article in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 48 citations in OpenAlex.
- Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026Review
- Complement System and Adhesion Molecule Skirmishes in Fabry Disease: Insights into Pathogenesis and Disease Mechanisms.International journal of molecular sciences · 2024Review
- Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis?Pediatric nephrology (Berlin, Germany) · 2024Review
- Review
- Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry DiseaseBalkan medical journal · 2024Article
- Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications.Frontiers in cardiovascular medicine · 2024Review
- Molecular Pathogenesis of Central and Peripheral Nervous System Complications in Anderson-Fabry Disease.International journal of molecular sciences · 2023Review
- Inflammation across the spectrum of hypertrophic cardiac phenotypes.Heart failure reviews · 2023Review
- Leukocyte Imbalances in Mucopolysaccharidoses Patients.Biomedicines · 2023Article
- Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases.Biomedicines · 2023Review
- Review
- Pathology and pathogenic pathways in fabry nephropathy.Clinical and experimental nephrology · 2021Review
- Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.Journal of clinical medicine · 2021Article
- Increased Serum Interleukin-6 and Tumor Necrosis Factor Alpha Levels in Fabry Disease: Correlation with Disease Burden.Clinics (Sao Paulo, Brazil) · 2021Article
- Fabry disease: where are we now?International urology and nephrology · 2020Review
- Fabry disease patients have an increased risk of stroke in the COVID-19 ERA. A hypothesis.Medical hypotheses · 2020Article
- Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta.American journal of translational research · 2019Article
- Corneal confocal microscopy detects corneal nerve damage and increased dendritic cells in Fabry disease.Scientific reports · 2018Article
- Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.Journal of medical genetics · 2017Article
- From Lysosomal Storage Diseases to NKT Cell Activation and Back.International journal of molecular sciences · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is an X-linked lysosomal storage disorder of glycosphingolipid catabolism due to the deficient activity of the enzyme alpha-galactosidase A. The non-degraded substrate, mainly globotriaosylceramide (Galα1-4Galβ1-4Glcβ1-1Cer; Gb(3)) accumulates progressively in the lysosome of various cells. The aim of this work was to analyse changes in leukocyte subpopulations and surface markers and to determine whether Gb(3) is increased in leukocytes of patients with untreated and treated Fabry disease. Blood samples obtained from 22 male Fabry patients (11 untreated and 11 on enzyme replacement therapy) and 22 normal controls were subjected to flow cytometric analysis of Gb(3) intracellular content, leukocyte subpopulations and cell markers. Based on the fluorescence intensity of bound monoclonal antibody, and relative to normal control leukocytes, Gb(3) appeared significantly increased in lymphocytes (but not in monocytes or granulocytes) from patients with Fabry disease. A significantly higher percentage of lymphocytes and CD19(+) cells and a reduced proportion of monocytes, CD8(+) cells and myeloid dendritic cells were detected in samples from Fabry patients compared with normal controls. CD1d expression was significantly lower and MHC class II surface expression was significantly higher in monocytes from Fabry patients than in normal controls. As previously observed for other adhesion molecules, the expression of CD31 (PECAM) was higher in leukocytes from Fabry patients. In conclusion, the differences recorded in this study reveal a leukocyte perturbation associated with the disease state in Fabry patients, whereas some abnormalities are less marked in treated patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.