{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T22:48:59Z","timestamp":1771541339840,"version":"3.50.1"},"reference-count":55,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,6,13]],"date-time":"2023-06-13T00:00:00Z","timestamp":1686614400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Funds","award":["UIDB\/04293\/2020"],"award-info":[{"award-number":["UIDB\/04293\/2020"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomedicines"],"abstract":"<jats:p>Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic mutations in the IDS gene, leading to deficient activity of the enzyme iduronate-2-sulfatase, which causes dermatan and heparan sulfate storage in the lysosomes. In MPS VI, there is dermatan sulfate lysosomal accumulation due to pathogenic mutations in the ARSB gene, leading to arylsulfatase B deficiency. Alterations in the immune system of MPS mouse models have already been described, but data concerning MPSs patients is still scarce. Herein, we study different leukocyte populations in MPS II and VI disease patients. MPS VI, but not MPS II patients, have a decrease percentage of natural killer (NK) cells and monocytes when compared with controls. No alterations were identified in the percentage of T, invariant NKT, and B cells in both groups of MPS disease patients. However, we discovered alterations in the na\u00efve versus memory status of both helper and cytotoxic T cells in MPS VI disease patients compared to control group. Indeed, MPS VI disease patients have a higher frequency of na\u00efve T cells and, consequently, lower memory T cell frequency than control subjects. Altogether, these results reveal MPS VI disease-specific alterations in some leukocyte populations, suggesting that the type of substrate accumulated and\/or enzyme deficiency in the lysosome may have a particular effect on the normal cellular composition of the immune system.<\/jats:p>","DOI":"10.3390\/biomedicines11061699","type":"journal-article","created":{"date-parts":[[2023,6,13]],"date-time":"2023-06-13T01:35:30Z","timestamp":1686620130000},"page":"1699","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Leukocyte Imbalances in Mucopolysaccharidoses Patients"],"prefix":"10.3390","volume":"11","author":[{"given":"Nuno","family":"Lopes","sequence":"first","affiliation":[{"name":"Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4383-3822","authenticated-orcid":false,"given":"Maria L.","family":"Maia","sequence":"additional","affiliation":[{"name":"Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal"}]},{"given":"C\u00e1tia S.","family":"Pereira","sequence":"additional","affiliation":[{"name":"Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"Cell Activation & Gene Expression (CAGE), Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S), Universidade do Porto, 4200-135 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1425-1498","authenticated-orcid":false,"given":"In\u00eas","family":"Mondrag\u00e3o-Rodrigues","sequence":"additional","affiliation":[{"name":"Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"Cell Activation & Gene Expression (CAGE), Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S), Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"Departamento de Ci\u00eancias M\u00e9dicas, Universidade de Aveiro, Campus Universit\u00e1rio de Santiago, Agra do Crasto, Edif\u00edcio 30, 3810-193 Aveiro, Portugal"}]},{"given":"Esmeralda","family":"Martins","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo (DHM), Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, 4099-001 Porto, Portugal"}]},{"given":"Rosa","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo (DHM), Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio, 4099-001 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3979-9924","authenticated-orcid":false,"given":"Ana","family":"Gaspar","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo (DHM), Centro Hospitalar e Universit\u00e1rio Lisboa Norte (CHULN), 1649-035 Lisbon, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2393-3463","authenticated-orcid":false,"given":"Patr\u00edcio","family":"Aguiar","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo (DHM), Centro Hospitalar e Universit\u00e1rio Lisboa Norte (CHULN), 1649-035 Lisbon, Portugal"},{"name":"Faculdade de Medicina da Universidade de Lisboa, Universidade de Lisboa, 1649-190 Lisbon, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6847-745X","authenticated-orcid":false,"given":"Paula","family":"Garcia","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo (DHM), Centro Hospitalar e Universit\u00e1rio de Coimbra, Centro de Desenvolvimento da Crian\u00e7a, 3000-075 Coimbra, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9908-3739","authenticated-orcid":false,"given":"Maria Teresa","family":"Cardoso","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo (DHM), Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o (CHUSJ), 4200-319 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1864-1503","authenticated-orcid":false,"given":"Esmeralda","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo (DHM), Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o (CHUSJ), 4200-319 Porto, Portugal"}]},{"given":"Elisa","family":"Le\u00e3o-Teles","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia de Doen\u00e7as Heredit\u00e1rias do Metabolismo (DHM), Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o (CHUSJ), 4200-319 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9655-3686","authenticated-orcid":false,"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Hospital de Cl\u00ednicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, DASA e Casa dos Raros, Porto Alegre 90610-150, Brazil"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2222-3622","authenticated-orcid":false,"given":"Maria F.","family":"Coutinho","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Genetics, INSA, 4000-055 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8881-9197","authenticated-orcid":false,"given":"Sandra","family":"Alves","sequence":"additional","affiliation":[{"name":"Research and Development Unit, Department of Genetics, INSA, 4000-055 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2252-6105","authenticated-orcid":false,"given":"M. F\u00e1tima","family":"Macedo","sequence":"additional","affiliation":[{"name":"Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"Cell Activation & Gene Expression (CAGE), Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade (i3S), Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"Departamento de Ci\u00eancias M\u00e9dicas, Universidade de Aveiro, Campus Universit\u00e1rio de Santiago, Agra do Crasto, Edif\u00edcio 30, 3810-193 Aveiro, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"471325","DOI":"10.1155\/2012\/471325","article-title":"Glycosaminoglycan Storage Disorders: A Review","volume":"2012","author":"Coutinho","year":"2012","journal-title":"Biochem. Res. 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