Publications by authors named "Paola de Haas"
Article Synopsis
- Immunological issues are now recognized as common symptoms in many inherited metabolic diseases (IMDs), including autoimmune responses and increased infections.
- A specific group of IMDs, known as congenital disorders of glycosylation (CDG), can even lead to primary immune deficiencies.
- Out of 171 IMDs examined, the majority show immune dysfunctions, with 84% linked to immunodeficiency and infections, 26% associated with innate immune defects, and 19% related to autoimmunity.
Article Synopsis
- - Congenital disorders of glycosylation (CDG) are inherited metabolic diseases caused by mutations in enzymes that affect protein glycosylation, leading to immune dysfunctions observed in various CDG types, although research on immune cells, especially in PMM2-CDG, is limited.
- - The study investigates the immune profiles and phagocytic abilities of monocytes from PMM2-CDG patients, finding no significant differences in monocyte subpopulations compared to healthy individuals, but detecting abnormal glycosylation patterns and slightly enhanced uptake of fungal particles in PMM2-CDG monocytes.
- - Researchers tested two glycosylation-impaired monocyte models, finding that tunicamycin-treated
N-glycosylation of membrane receptors is important for a wide variety of cellular processes. In the immune system, loss or alteration of receptor glycosylation can affect pathogen recognition, cell-cell interaction, and activation as well as migration. This is not only due to aberrant folding of the receptor, but also to altered lateral mobility or aggregation capacity.
View Article and Find Full Text PDFIn the version of this article initially published, the first affiliation lacked 'MRC'; the correct name of the institution is 'MRC Weatherall Institute of Molecular Medicine'. Two designations (SP110Y and ST110H) were incorrect in the legend to Fig. 6f,h,i.
View Article and Find Full Text PDFTo tackle the complexity of cross-reactive and pathogen-specific T cell responses against related Salmonella serovars, we used mass cytometry, unbiased single-cell cloning, live fluorescence barcoding, and T cell-receptor sequencing to reconstruct the Salmonella-specific repertoire of circulating effector CD4 T cells, isolated from volunteers challenged with Salmonella enterica serovar Typhi (S. Typhi) or Salmonella Paratyphi A (S. Paratyphi).
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