[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

[PROVISIONAL] 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 a functionally impaired immune system that contributes to the high predisposition to infections. We ev...

Full description

Bibliographic Details
Main Authors:	Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Mariana Jobim, Filippo Vairo, Ida V. D. Schwartz
Format:	Article
Language:	English
Published:	Sociedade Brasileira de Genética
Series:	Genetics and Molecular Biology
Subjects:	Mucolipidosis III gamma inborn error of metabolism humoral immune response B-cell functions
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005022104&lng=en&tlng=en

Similar Items

In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts
by: Fernanda Sperb-Ludwig, et al.
Published: (2023-12-01)

A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients
by: Nataniel F Ludwig, et al.
Published: (2021-04-01)

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing
by: Nataniel Floriano Ludwig, et al.
Published: (2017-06-01)

Mucolipidosis III
by: Ibis Menéndez Alejo, et al.
Published: (1995-08-01)

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype
by: F. Sperb-Ludwig, et al.
Published: (2015-03-01)

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review
by: Chiel J. deBode, et al.
Published: (2022-11-01)

Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans
by: Nivethitha Arunkumar, et al.
Published: (2021-07-01)

Bilateral carpal tunnel syndrome and multiple trigger fingers in a child with mucolipidosis Type III disease
by: Ahmadreza Afshar
Published: (2011-01-01)

Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report
by: Karl De Geer, et al.
Published: (2023-09-01)

Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis)
by: Shao-Jia Mao, et al.
Published: (2022-04-01)

The Dictyostelium Model for Mucolipidosis Type IV
by: Claire Y. Allan, et al.
Published: (2022-04-01)

Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV
by: Albert L. Misko, et al.
Published: (2022-02-01)

Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene
by: Mona L. Essawi, et al.
Published: (2021-08-01)

Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III
by: Xinying Hong, et al.
Published: (2023-06-01)

Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant
by: Parith Wongkittichote, et al.
Published: (2021-06-01)

Unique molecular signature in mucolipidosis type IV microglia
by: Antony Cougnoux, et al.
Published: (2019-12-01)

Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis—A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients
by: Luise Sophie Ammer, et al.
Published: (2022-06-01)

Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experience
by: Ritma Boruah, et al.
Published: (2022-03-01)

Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV
by: Molly Mepyans, et al.
Published: (2020-07-01)

A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
by: Ju Sun Heo, et al.
Published: (2012-11-01)

Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells
by: Jarrod W. Barnes, et al.
Published: (2020-04-01)

CNS Manifestations in Mucolipidosis Type II—A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
by: Luise Sophie Ammer, et al.
Published: (2023-06-01)

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
by: Chi-Chun Ho, et al.
Published: (2018-09-01)

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
by: Abdelali Zrhidri, et al.
Published: (2017-09-01)

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series
by: Aleksandra Jezela-Stanek, et al.
Published: (2020-06-01)

Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations
by: Si-jia He, et al.
Published: (2023-07-01)

Mucolipidosis Type IV in Omani Families with a Novel <i>MCOLN1</i> Mutation: Search for Evidence of Founder Effect
by: Badriya Al-Alawi, et al.
Published: (2022-01-01)

Brain cell type specific proteomics approach to discover pathological mechanisms in the childhood CNS disorder mucolipidosis type IV
by: Madison Sangster, et al.
Published: (2023-08-01)

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
by: Luise Sophie Ammer, et al.
Published: (2021-03-01)

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV
by: Lauren C. Boudewyn, et al.
Published: (2017-09-01)

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases
by: Agnieszka Ługowska, et al.
Published: (2021-02-01)

Humor as a Political Act: Study of Indonesian Presidents’ Humor
by: Surahmat Surahmat, et al.
Published: (2023-03-01)

Clinical Aspects of B Cell Immunodeficiencies: The Past, the Present and the Future
by: Aisha Ahmed, et al.
Published: (2022-10-01)

Passages of the Humor of Humors
by: Luis Bueno Ochoa
Published: (2019-01-01)

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma
by: Lena Marie Westermann, et al.
Published: (2020-11-01)

Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency
by: C. Fazi, et al.
Published: (2022-03-01)

The psychology of humor : an integrative approach /
by: 287894 Martin, Rod A.
Published: (2007)

Appreciation of different styles of humor: An fMRI study
by: Yu-Chen Chan, et al.
Published: (2018-10-01)

The Relationship Between Humor Styles and Forgiveness
by: William Hampes
Published: (2016-08-01)

To Be or Not To Be Humorous? Cross Cultural Perspectives on Humor
by: Xiaodong Yue, et al.
Published: (2016-10-01)