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DFS70 Autoantibodies: Clinical Utility in Antinuclear Antibody Testing KU Leuven
BACKGROUND: Screening for antinuclear antibodies (ANA) by indirect immunofluorescence (IIF) on HEp-2 cells is helpful for the diagnosis and classification of ANA-associated rheumatic diseases, including systemic lupus erythematosus, Sjögren syndrome, mixed connective tissue disease, systemic sclerosis, and inflammatory myopathies. The dense fine speckled (DFS) pattern is a special HEp-2 IIF pattern (produced by anti-DFS70 antibodies) because it ...
Combined deficient response to polysaccharide-based and protein-based vaccines predicts a severe clinical phenotype KU Leuven Universiteit Gent
OBJECTIVES: Antibody response on polysaccharide- and protein-based vaccines is useful to test B cell functionality. As only few studies have explored the value of studying immune response to both vaccines, we evaluated the clinical value of anti-polysaccharide and anti-protein Luminex-based multiplex assays in context of primary immunodeficiency (PID) diagnosis. METHODS: A 10-plex Luminex-based assay detecting antibodies to ten pneumococcal ...
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome. KU Leuven Vlaams Instituut voor Biotechnologie
Mutations in the N-terminal WD40 domain of coatomer protein complex subunit α (COPA) cause a type I interferonopathy, typically characterized by alveolar hemorrhage, arthritis, and nephritis. We described 3 heterozygous mutations in the C-terminal domain (CTD) of COPA (p.C1013S, p.R1058C, and p.R1142X) in 6 children from 3 unrelated families with a similar syndrome of autoinflammation and autoimmunity. We showed that these CTD COPA mutations ...
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome KU Leuven
The DNA polymerase δ complex (PolD), comprising catalytic subunit POLD1 and accessory subunits POLD2, POLD3, and POLD4, is essential for DNA synthesis and is central to genome integrity. We identified, by whole exome sequencing, a homozygous missense mutation (c.1118A > C; p.K373T) in POLD3 in a patient with Omenn syndrome. The patient exhibited severely decreased numbers of naïve T cells associated with a restricted T-cell receptor ...
Plasma cells are not restricted to the CD27+phenotype: characterization of CD27-CD43+antibody-secreting cells KU Leuven
UNLABELLED: Circulating antibody-secreting cells are present in the peripheral blood of healthy individuals reflecting the continued activity of the humoral immune system. Antibody-secreting cells typically express CD27. Here we describe and characterize a small population of antibody-secreting class switched CD19+CD43+ B cells that lack expression of CD27 in the peripheral blood of healthy subjects. In this study, we characterized CD27-CD43+ ...