Publications by authors named "C A De Vriendt"
Article Synopsis
- A new External Quality Assessment Scheme (EQAS) was developed for clinical flow cytometry to help laboratories monitor their performance in diagnosing rare immunological diseases, specifically focusing on the primary immunodeficiency Orientation Tube (PIDOT).
- The EQAS includes both 'wet' and 'dry' formats, allowing labs to compare their data to established benchmarks without needing to distribute physical samples.
- Results from six EQAS rounds across 20 labs showed consistent technical performance and improved accuracy in identifying lymphoid abnormalities, highlighting the scheme's potential for enhancing diagnostics in rare diseases.
Article Synopsis
- - Common variable immunodeficiency (CVID) is a complex condition characterized by low immunoglobulin production, leading to higher infection risks and various clinical manifestations; research shows that immunophenotyping is crucial for diagnosing and classifying the disease.
- - A review of 170 studies highlights specific immunophenotypic patterns (like variations in B and T cell subsets) that correlate with clinical symptoms and can aid in subclassifying CVID cases, particularly those linked to noninfectious complications.
- - Despite advancements in immunophenotyping, challenges remain regarding the consistent use of flow cytometry for CVID classification, indicating the need for standardized methods and collaborative research to improve diagnostic accuracy and disease understanding.
Article Synopsis
- - A rare case of intermediate uveitis was reported in a 23-year-old male with common variable immunodeficiency (CVID) and a specific genetic variant (TNFRSF13B).
- - The patient experienced blurred vision and floaters in both eyes, with a previous ineffective treatment using corticosteroids, leading to the discovery of bilateral uveitis and retinal vasculitis.
- - After switching from mycophenolate mofetil to adalimumab, the patient achieved clinical remission, suggesting the importance of anti-TNF therapy in CVID-related eye conditions.
A 49-year-old patient with a history of lymphoproliferation and autoimmune cytopenias presented with unexplained longitudinal extensive transverse myelitis. Flow cytometry on peripheral blood showed an elevated level of double negative T lymphocytes, a finding typical for autoimmune lymphoproliferative syndrome (ALPS). Inborn error of immunity (IEI) gene panel demonstrated a heterozygous variant in the FAS gene (c.
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