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Humoral immune response in adult Brazilian patients with mucolipidosis III gamma

dc.contributor.authorSperb, Fernandapt_BR
dc.contributor.authorSiebert, Marinapt_BR
dc.contributor.authorAlegra, Tacianept_BR
dc.contributor.authorVelho, Renata Voltolinipt_BR
dc.contributor.authorLudwig, Nataniel Florianopt_BR
dc.contributor.authorSiebert, Marinapt_BR
dc.contributor.authorWilson, Mariana de Sampaio Leite Jobimpt_BR
dc.contributor.authorVairo, Filippo Pinto ept_BR
dc.contributor.authorSchwartz, Ida Vanessa Doederleinpt_BR
dc.date.accessioned2021-11-25T04:36:50Zpt_BR
dc.date.issued2019pt_BR
dc.identifier.issn1415-4757pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/232164pt_BR
dc.description.abstractMucolipidosis II and III (ML II and III) alpha/beta and ML III gamma are lysosomal diseases caused by GlcNAc-1-phosphotransferase deficiency. Previous data indicate that MLII patients have functionally impaired immune system that contributes to predisposition to infections.We evaluated the immunological phenotype of three Brazilian patients with ML III gamma. Our data suggest that the residual activity of GlcNAc-1-phosphotransferase in patients with ML III gamma is enough to allow the targeting of the lysosomal enzymes required for B-cell functions maintenance.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofGenetics and molecular biology. Vol. 42, no. 3 (2019), p. 571-573.pt_BR
dc.rightsOpen Accessen
dc.subjectMucolipidosespt_BR
dc.subjectMucolipidosis III gammaen
dc.subjectInborn error of metabolismen
dc.subjectAdultopt_BR
dc.subjectErros inatos do metabolismopt_BR
dc.subjectHumoral immune responseen
dc.subjectB-cell functionsen
dc.subjectImunidade humoralpt_BR
dc.subjectBrasilpt_BR
dc.titleHumoral immune response in adult Brazilian patients with mucolipidosis III gammapt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb001133100pt_BR
dc.type.originNacionalpt_BR


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