Publicação
Can enzyme replacement therapy revert¨iNKT¨cell dysfunction in acid sphingomyelinase deficiency patients?
| datacite.subject.fos | Ciências Médicas | |
| dc.contributor.author | Chaves, João | |
| dc.contributor.author | da Silva Gaspar, Paulo Jorge Miranda | |
| dc.contributor.author | Macedo, Fatima | |
| dc.date.accessioned | 2026-02-04T16:08:43Z | |
| dc.date.available | 2026-02-04T16:08:43Z | |
| dc.date.issued | 2025-03-28 | |
| dc.description.abstract | Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease caused by deficient activity of the enzyme acid sphingomyelinase (ASM), resulting in an abnormal accumulation of sphingomyelin in lysosomes. The abnormal accumulation of sphingomyelin, a crucial cell membrane component, ultimately impairs pulmonary, hepatic, and sometimes neurological functions, with severe forms of the disease being fatal in the first years of life. Invariant Natural Killer T (iNKT) cells are lipid-reactive T cells that play a central role in a wide range of immune responses including cancer, infection and inflammation. iNKT cells are restricted to CD1d, depending on the presentation of lipids by this molecule for their function. Sphingomyelin is a lipid with affinity for CD1d and its accumulation in ASMD influences the role of iNKT cells by impairing normal lipid antigen presentation to these cells. Interestingly, ASM-/- mice have reduced number of iNKT cells and impaired iNKT cell activity, in ASMD patients a reduced frequency of iNKT cells is also observed (1). Noteworthy, enzyme replacement therapy (ERT) with recombinant ASM can prevent iNKT cell deficiency in ASM-/- mice (1). In the current study we are investigating the effect of ERT on iNKT cells in ASMD adult patients. | eng |
| dc.description.sponsorship | This work was supported by “Bolsa SPDM Aguinaldo Cabral 2022. | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/10806 | |
| dc.language.iso | eng | |
| dc.peerreviewed | yes | |
| dc.relation.hasversion | https://www.spdm.org.pt/media/6798/v41l_resumo_spdm2025_c.pdf | |
| dc.rights.uri | N/A | |
| dc.subject | Acid Sphingomyelinase Deficiency (ASMD) | |
| dc.subject | Acid Sphingomyelinase (ASM) | |
| dc.subject | Lysosomal Storage Disease | |
| dc.subject | iNKT | |
| dc.subject | Doenças Genéticas | |
| dc.title | Can enzyme replacement therapy revert¨iNKT¨cell dysfunction in acid sphingomyelinase deficiency patients? | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-03-28 | |
| oaire.citation.conferencePlace | Lisboa, Portugal | |
| oaire.citation.title | 21st International Symposium da Sociedade Portuguesa de Doenças Metabólicas (SPDM) “Todas estas sessões são muito úteis”, 27-28 march 2025 | |
| oaire.version | http://purl.org/coar/version/c_be7fb7dd8ff6fe43 | |
| person.familyName | Chaves | |
| person.familyName | da Silva Gaspar | |
| person.familyName | Macedo | |
| person.givenName | João | |
| person.givenName | Paulo Jorge Miranda | |
| person.givenName | Fatima | |
| person.identifier | 1370352 | |
| person.identifier.ciencia-id | E211-03FB-612F | |
| person.identifier.ciencia-id | 7213-8E3E-DC0D | |
| person.identifier.ciencia-id | 2615-7465-D6E0 | |
| person.identifier.orcid | 0000-0002-4255-0946 | |
| person.identifier.orcid | 0000-0002-2252-6105 | |
| person.identifier.rid | K-4425-2013 | |
| person.identifier.rid | L-4623-2013 | |
| person.identifier.scopus-author-id | 57201454370 | |
| person.identifier.scopus-author-id | 7101989846 | |
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