IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives
Ring chromosome 14 (RC14) syndrome is an ultra-rare disorder characterized by drug-resistant epilepsy, intellectual disabilities, autism, and recurrent infections, suggesting a possible underlying immune dysregulation. We analyzed immunoglobulin G (IgG) N-glycosylation profiles in six RC14 patients and compared them with age-matched healthy controls using ultra-high-performance liquid chromatography (UHPLC) coupled with fluorescence detection (FLR) and high-resolution electrospray ionization mass spectrometry (ESI-MS). Patients showed decreased galactosylation and sialylation, resembling pro-inflammatory patterns observed in autoimmune diseases. These alterations were not observed in total serum glycoproteins, indicating a selective effect on IgG. One patient treated with intravenous immunoglobulin (IVIG) showed clinical improvement, which led us to investigate causality.
Authors
- Angela Messina (ORCID: https://orcid.org/0000-0001-9887-7326)
- Alessandro Vaisfeld (ORCID: https://orcid.org/0000-0001-8413-621X)
- Enrico Parano (ORCID: https://orcid.org/0000-0002-0713-7339)
- Domenico Garozzo (ORCID: https://orcid.org/0000-0002-9087-9818)
- Donata Agata Romeo (ORCID: https://orcid.org/0009-0007-9421-4817)
- Marco Crimi (ORCID: https://orcid.org/0000-0001-6903-9163)
- Angelo Palmigiano (ORCID: https://orcid.org/0000-0002-6130-1830)
- Annunziata Carrese Cirillo
- Rita Barone (ORCID: https://orcid.org/0000-0001-6302-2686)
- Luisa Sturiale (ORCID: https://orcid.org/0000-0002-3996-1138)
Institutions
- University of Bergamo (IT)
- University of Catania (IT)
- Azienda Sanitaria Unità Locale di Reggio Emilia (IT)
- Centro Ricerche Produzioni Animali (IT)
- Azienda USL di Bologna (IT)
- Institute for Biomedical Research and Innovation (IT)
- Institute of Polymers, Composites and Biomaterials (IT)
- University of Bologna (IT)
Publication Details
- Journal
- Biomolecules
- Published
- 2026-05-22
- DOI
- https://doi.org/10.3390/biom16060760
- Primary Topic
- Glycosylation and Glycoproteins Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00