{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T10:49:16Z","timestamp":1785408556005,"version":"3.56.0"},"reference-count":56,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T00:00:00Z","timestamp":1779408000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union\u2014Next Generation EU, Mission 4 Component 1, Project \u201cNGLYNEU\u201d","award":["E53D23009730006"],"award-info":[{"award-number":["E53D23009730006"]}]},{"award":["E53D23009730006"],"award-info":[{"award-number":["E53D23009730006"]}],"id":[{"id":"https:\/\/ror.org\/019w4f821","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Ministry of University and Research\u2014PRIN (Research Projects of National Relevant Interest) 2022","award":["202255RLB4"],"award-info":[{"award-number":["202255RLB4"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/biom16060760","type":"journal-article","created":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T13:12:08Z","timestamp":1779455528000},"page":"760","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9887-7326","authenticated-orcid":false,"given":"Angela","family":"Messina","sequence":"first","affiliation":[{"name":"CNR\u2014Institute for Polymers, Composites and Biomaterials (IPCB), 95126 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6130-1830","authenticated-orcid":false,"given":"Angelo","family":"Palmigiano","sequence":"additional","affiliation":[{"name":"CNR\u2014Institute for Polymers, Composites and Biomaterials (IPCB), 95126 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donata Agata","family":"Romeo","sequence":"additional","affiliation":[{"name":"CNR\u2014Institute for Polymers, Composites and Biomaterials (IPCB), 95126 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3996-1138","authenticated-orcid":false,"given":"Luisa","family":"Sturiale","sequence":"additional","affiliation":[{"name":"CNR\u2014Institute for Polymers, Composites and Biomaterials (IPCB), 95126 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Parano","sequence":"additional","affiliation":[{"name":"CNR\u2014Institute for Biomedical Research and Innovation (IRIB), 95126 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6903-9163","authenticated-orcid":false,"given":"Marco","family":"Crimi","sequence":"additional","affiliation":[{"name":"Ring14 Italy, Via Flavio Gioia 5, 42124 Reggio Emilia, Italy"},{"name":"Kaleidos SCS, Scientific Office, Via Andrea Moretti, 24121 Bergamo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annunziata Carrese","family":"Cirillo","sequence":"additional","affiliation":[{"name":"Azienda Unit\u00e0 Sanitaria Locale di Reggio Emilia, 42122 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8413-621X","authenticated-orcid":false,"given":"Alessandro","family":"Vaisfeld","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum-University of Bologna, 40126 Bologna, Italy"},{"name":"Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6302-2686","authenticated-orcid":false,"given":"Rita","family":"Barone","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Section, Department of Clinical and Experimental Medicine, University of Catania, 95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9087-9818","authenticated-orcid":false,"given":"Domenico","family":"Garozzo","sequence":"additional","affiliation":[{"name":"CNR\u2014Institute for Polymers, Composites and Biomaterials (IPCB), 95126 Catania, Italy"},{"name":"CNR\u2014Institute for Biomedical Research and Innovation (IRIB), 95126 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,22]]},"reference":[{"key":"ref_1","first-page":"23","article-title":"The Dr syndrome. 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