Humoral immune response in adult brazilian patients with mucolipidosis iii gamma

Fernanda Sperb-Ludwig; Taciane Alegra; Renata Voltolini Velho; Nataniel Ludwig; Marina Siebert; Mariana Jobim; Filippo Vairo; Ida V.D. Schwartz

doi:10.1590/1678-4685-gmb-2018-0246

Humoral immune response in adult brazilian patients with mucolipidosis iii gamma

Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Mariana Jobim, Filippo Vairo, Ida V.D. Schwartz

Medical Genetics

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English (US)
Pages (from-to)	571-573
Number of pages	3
Journal	Genetics and Molecular Biology
Volume	42
Issue number	3
DOIs	https://doi.org/10.1590/1678-4685-gmb-2018-0246
State	Published - Jul 1 2019

Keywords

B-cell functions
Humoral immune response
Inborn error of metabolism
Mucolipidosis III gamma

ASJC Scopus subject areas

Molecular Biology
Genetics

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Humoral immune response in adult brazilian patients with mucolipidosis iii gamma. / Sperb-Ludwig, Fernanda; Alegra, Taciane; Velho, Renata Voltolini; Ludwig, Nataniel; Siebert, Marina; Jobim, Mariana; Vairo, Filippo; Schwartz, Ida V.D.

In: Genetics and Molecular Biology, Vol. 42, No. 3, 01.07.2019, p. 571-573.

Research output: Contribution to journal › Article › peer-review

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title = "Humoral immune response in adult brazilian patients with mucolipidosis iii gamma",

abstract = "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.",

keywords = "B-cell functions, Humoral immune response, Inborn error of metabolism, Mucolipidosis III gamma",

author = "Fernanda Sperb-Ludwig and Taciane Alegra and Velho, {Renata Voltolini} and Nataniel Ludwig and Marina Siebert and Mariana Jobim and Filippo Vairo and Schwartz, {Ida V.D.}",

note = "Funding Information: We thank the families for participating in this study. We would like to thank Prof. Thomas Braulke from Children{\textquoteright}s Hospital, University Medical Center Hamburg-Eppendorf (Germany) for his valuable comments on this paper. This project was supported by FIPE–HCPA, FAPERGS, CAPES, CNPq (Brazil).",

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AU - Ludwig, Nataniel

AU - Siebert, Marina

AU - Jobim, Mariana

AU - Vairo, Filippo

AU - Schwartz, Ida V.D.

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AB - 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.

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