{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T08:29:29Z","timestamp":1790152169256,"version":"4.0.1"},"reference-count":27,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2017,5,1]],"date-time":"2017-05-01T00:00:00Z","timestamp":1493596800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Glycogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucose-6\u2013phosphate transporter and characterized by altered glycogen\/glucose homeostasis. A higher frequency of autoimmune diseases has been observed in GSD-1b patients, but the molecular determinants leading to this phenomenon remain unknown. To address this question, we investigated the effect of glucose-6\u2013phosphate transporter mutation on immune cell homeostasis and CD4+ T cell functions. In GSD-1b subjects, we found lymphopenia and a reduced capacity of T cells to engage glycolysis upon TCR stimulation. These phenomena associated with reduced expression of the FOXP3 transcription factor, lower suppressive function in peripheral CD4+CD25+FOXP3+ regulatory T cells, and an impaired capacity of CD4+CD25\u2212 conventional T cells to induce expression of FOXP3 after suboptimal TCR stimulation. These data unveil the metabolic determinant leading to an increased autoimmunity risk in GSD-1b patients.<\/jats:p>","DOI":"10.4049\/jimmunol.1601946","type":"journal-article","created":{"date-parts":[[2017,4,8]],"date-time":"2017-04-08T00:30:29Z","timestamp":1491611429000},"page":"3803-3808","source":"Crossref","is-referenced-by-count":51,"title":["Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function"],"prefix":"10.1093","volume":"198","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9458-3926","authenticated-orcid":false,"given":"Daniela","family":"Melis","sequence":"first","affiliation":[{"name":"Sezione di Pediatria, Dipartimento di Scienze Mediche Traslazionali, Universit\u00e0 degli Studi di Napoli \u201cFederico II,\u201d 80131 Naples,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fortunata","family":"Carbone","sequence":"additional","affiliation":[{"name":"Laboratorio di Immunologia, Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale delle Ricerche , 80131 Naples,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Minopoli","sequence":"additional","affiliation":[{"name":"Sezione di Pediatria, Dipartimento di Scienze Mediche Traslazionali, Universit\u00e0 degli Studi di Napoli \u201cFederico II,\u201d 80131 Naples,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"La Rocca","sequence":"additional","affiliation":[{"name":"Laboratorio di Immunologia, Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale delle Ricerche , 80131 Naples,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5319-0977","authenticated-orcid":false,"given":"Francesco","family":"Perna","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Clinica e Chirurgia, Universit\u00e0 degli Studi di Napoli \u201cFederico II,\u201d 80131 Naples,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9477-0991","authenticated-orcid":false,"given":"Veronica","family":"De Rosa","sequence":"additional","affiliation":[{"name":"Laboratorio di Immunologia, Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale delle Ricerche , 80131 Naples,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8414-1676","authenticated-orcid":false,"given":"Mario","family":"Galgani","sequence":"additional","affiliation":[{"name":"Laboratorio di Immunologia, Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale delle Ricerche , 80131 Naples,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Generoso","family":"Andria","sequence":"additional","affiliation":[{"name":"Sezione di Pediatria, Dipartimento di Scienze Mediche Traslazionali, Universit\u00e0 degli Studi di Napoli \u201cFederico II,\u201d 80131 Naples,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Parenti","sequence":"additional","affiliation":[{"name":"Sezione di Pediatria, Dipartimento di Scienze Mediche Traslazionali, Universit\u00e0 degli Studi di Napoli \u201cFederico II,\u201d 80131 Naples,","place":["Italy"]},{"name":"Istituto Telethon di Genetica e Medicina , 80078 Pozzuoli, Naples,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9429-0616","authenticated-orcid":false,"given":"Giuseppe","family":"Matarese","sequence":"additional","affiliation":[{"name":"Laboratorio di Immunologia, Istituto di Endocrinologia e Oncologia Sperimentale, Consiglio Nazionale delle Ricerche , 80131 Naples,","place":["Italy"]},{"name":"Laboratorio delle Cellule T Regolatorie, Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli \u201cFederico II,\u201d 80131 Naples,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,5,15]]},"reference":[{"key":"2025030615131354100_r1","doi-asserted-by":"crossref","first-page":"121","DOI":"10.2174\/1566524024605798","article-title":"Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex","volume":"2","author":"Chou","year":"2002","journal-title":"Curr. 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