Humoral immune response in adult Brazilian patients with mucolipidosis III gamma

Detalhes bibliográficos
Autor(a) principal: Sperb, Fernanda
Data de Publicação: 2019
Outros Autores: Siebert, Marina, Alegra, Taciane, Velho, Renata Voltolini, Ludwig, Nataniel Floriano, Wilson, Mariana de Sampaio Leite Jobim, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/232164
Resumo: Mucolipidosis 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.
id UFRGS-2_210da66c4398151afe2012a0cfd0e93c
oai_identifier_str oai:www.lume.ufrgs.br:10183/232164
network_acronym_str UFRGS-2
network_name_str Repositório Institucional da UFRGS
repository_id_str
spelling Sperb, FernandaSiebert, MarinaAlegra, TacianeVelho, Renata VoltoliniLudwig, Nataniel FlorianoSiebert, MarinaWilson, Mariana de Sampaio Leite JobimVairo, Filippo Pinto eSchwartz, Ida Vanessa Doederlein2021-11-25T04:36:50Z20191415-4757http://hdl.handle.net/10183/232164001133100Mucolipidosis 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.application/pdfengGenetics and molecular biology. Vol. 42, no. 3 (2019), p. 571-573.MucolipidosesAdultoErros inatos do metabolismoImunidade humoralBrasilMucolipidosis III gammaInborn error of metabolismHumoral immune responseB-cell functionsHumoral immune response in adult Brazilian patients with mucolipidosis III gammainfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001133100.pdf.txt001133100.pdf.txtExtracted Texttext/plain11706http://www.lume.ufrgs.br/bitstream/10183/232164/2/001133100.pdf.txt5416c89a049034e4e03adc7e87a64508MD52ORIGINAL001133100.pdfTexto completo (inglês)application/pdf442751http://www.lume.ufrgs.br/bitstream/10183/232164/1/001133100.pdff81ea1eda0ac395c4c5a48ef1ec4d9b3MD5110183/2321642022-07-14 04:56:09.308276oai:www.lume.ufrgs.br:10183/232164Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2022-07-14T07:56:09Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Humoral immune response in adult Brazilian patients with mucolipidosis III gamma
title Humoral immune response in adult Brazilian patients with mucolipidosis III gamma
spellingShingle Humoral immune response in adult Brazilian patients with mucolipidosis III gamma
Sperb, Fernanda
Mucolipidoses
Adulto
Erros inatos do metabolismo
Imunidade humoral
Brasil
Mucolipidosis III gamma
Inborn error of metabolism
Humoral immune response
B-cell functions
title_short Humoral immune response in adult Brazilian patients with mucolipidosis III gamma
title_full Humoral immune response in adult Brazilian patients with mucolipidosis III gamma
title_fullStr Humoral immune response in adult Brazilian patients with mucolipidosis III gamma
title_full_unstemmed Humoral immune response in adult Brazilian patients with mucolipidosis III gamma
title_sort Humoral immune response in adult Brazilian patients with mucolipidosis III gamma
author Sperb, Fernanda
author_facet Sperb, Fernanda
Siebert, Marina
Alegra, Taciane
Velho, Renata Voltolini
Ludwig, Nataniel Floriano
Wilson, Mariana de Sampaio Leite Jobim
Vairo, Filippo Pinto e
Schwartz, Ida Vanessa Doederlein
author_role author
author2 Siebert, Marina
Alegra, Taciane
Velho, Renata Voltolini
Ludwig, Nataniel Floriano
Wilson, Mariana de Sampaio Leite Jobim
Vairo, Filippo Pinto e
Schwartz, Ida Vanessa Doederlein
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Sperb, Fernanda
Siebert, Marina
Alegra, Taciane
Velho, Renata Voltolini
Ludwig, Nataniel Floriano
Siebert, Marina
Wilson, Mariana de Sampaio Leite Jobim
Vairo, Filippo Pinto e
Schwartz, Ida Vanessa Doederlein
dc.subject.por.fl_str_mv Mucolipidoses
Adulto
Erros inatos do metabolismo
Imunidade humoral
Brasil
topic Mucolipidoses
Adulto
Erros inatos do metabolismo
Imunidade humoral
Brasil
Mucolipidosis III gamma
Inborn error of metabolism
Humoral immune response
B-cell functions
dc.subject.eng.fl_str_mv Mucolipidosis III gamma
Inborn error of metabolism
Humoral immune response
B-cell functions
description Mucolipidosis 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.
publishDate 2019
dc.date.issued.fl_str_mv 2019
dc.date.accessioned.fl_str_mv 2021-11-25T04:36:50Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/other
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10183/232164
dc.identifier.issn.pt_BR.fl_str_mv 1415-4757
dc.identifier.nrb.pt_BR.fl_str_mv 001133100
identifier_str_mv 1415-4757
001133100
url http://hdl.handle.net/10183/232164
dc.language.iso.fl_str_mv eng
language eng
dc.relation.ispartof.pt_BR.fl_str_mv Genetics and molecular biology. Vol. 42, no. 3 (2019), p. 571-573.
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFRGS
instname:Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
instname_str Universidade Federal do Rio Grande do Sul (UFRGS)
instacron_str UFRGS
institution UFRGS
reponame_str Repositório Institucional da UFRGS
collection Repositório Institucional da UFRGS
bitstream.url.fl_str_mv http://www.lume.ufrgs.br/bitstream/10183/232164/2/001133100.pdf.txt
http://www.lume.ufrgs.br/bitstream/10183/232164/1/001133100.pdf
bitstream.checksum.fl_str_mv 5416c89a049034e4e03adc7e87a64508
f81ea1eda0ac395c4c5a48ef1ec4d9b3
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
repository.name.fl_str_mv Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)
repository.mail.fl_str_mv
_version_ 1815447775232393216

Registros relacionados