Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.0K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.0K
Gastritis II: Pathophysiology01:26

Gastritis II: Pathophysiology

18
The pathophysiology of gastritis begins with the colonization of the stomach lining by Helicobacter pylori (H. pylori). This bacterium spreads mainly via the oral-oral route through saliva or shared utensils, and can also be transmitted in overcrowded or unhygienic environments through contaminated water, despite its brief survival outside the body.ColonizationOnce ingested, H. pylori enters the stomach and begins colonization by navigating through the mucus layer lining the stomach wall. It...
18
Transcytosis of IgG01:15

Transcytosis of IgG

3.4K
Transcytosis is the process in which molecules are internalized by endocytosis, transported across the cell, and released through exocytosis from the opposite end of the cell. Molecules such as insulin, immunoglobulins, and certain nutrients are transferred through the recycling endosomes by recycling and transcytosis.
IgG molecules from a mother undergo transcytosis starting around 13 weeks of gestation. The amount of IgG transferred and entering the fetal blood circulation increases with...
3.4K
Type I Diabetes I: Introduction01:12

Type I Diabetes I: Introduction

8
Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1...
8
Hyperglycemia01:29

Hyperglycemia

2
Hyperglycemia is an abnormally high blood glucose level. It is diagnosed by fasting glucose ≥126 mg/dL, 2-hour oral glucose tolerance test (or OGTT) ≥200 mg/dL, random glucose ≥200 mg/dL with symptoms, or HbA1c ≥6.5%. However, HbA1c results may be unreliable in certain conditions, such as anemia or hemoglobinopathies, and the diagnosis should be confirmed unless classic symptoms are present. Postprandial hyperglycemia is typically considered significant when glucose...
2
Proteoglycans01:05

Proteoglycans

4.0K
Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
4.0K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A Detrimental NFKB2 Missense Variant is Associated with Hypogammaglobulinemia.

Journal of clinical immunology·2026
Same author

ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype.

Journal of human immunity·2026
Same author

LRBA regulates actin cytoskeleton dynamics through NMIIA during B cell immune responses.

EMBO reports·2026
Same author

Reply to: Comment on: Investigating Biomarkers for Inborn Errors of Immunity in a Prospective Study of Patients With Autoimmune Cytopenia.

Pediatric blood & cancer·2026
Same author

How I Treat: STAT3 hyper IgE syndrome.

Journal of human immunity·2026
Same author

FAS-controlled T cells drive lymphoproliferation through glycolysis without effector differentiation.

Journal of human immunity·2026

Related Experiment Video

Updated: Apr 21, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

23.9K

Hyper-IgE syndromes: reviewing PGM3 deficiency.

Linlin Yang1, Manfred Fliegauf, Bodo Grimbacher

  • 1Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany.

Current Opinion in Pediatrics
|November 4, 2014
PubMed
Summary

Mutations in phosphoglucomutase 3 (PGM3) cause a rare genetic disorder linking congenital glycosylation disease with hyper-IgE syndrome. This genetic defect leads to immune system dysfunction and recurrent infections.

More Related Videos

Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy
10:00

Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy

Published on: November 8, 2016

8.1K
Adoptive Immunotherapy of iNKT Cells in Glucose-6-Phosphate Isomerase G6PI-Induced RA Mice
08:43

Adoptive Immunotherapy of iNKT Cells in Glucose-6-Phosphate Isomerase G6PI-Induced RA Mice

Published on: January 31, 2020

6.2K

Related Experiment Videos

Last Updated: Apr 21, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

23.9K
Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy
10:00

Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy

Published on: November 8, 2016

8.1K
Adoptive Immunotherapy of iNKT Cells in Glucose-6-Phosphate Isomerase G6PI-Induced RA Mice
08:43

Adoptive Immunotherapy of iNKT Cells in Glucose-6-Phosphate Isomerase G6PI-Induced RA Mice

Published on: January 31, 2020

6.2K

Area of Science:

  • Immunology
  • Genetics
  • Biochemistry

Background:

  • Hyper-IgE syndromes are primary immunodeficiencies marked by eczema, recurrent infections, and high IgE levels.
  • Recent research links autosomal recessive hyper-IgE syndromes to mutations in phosphoglucomutase 3 (PGM3).
  • PGM3 plays a crucial role in the protein glycosylation pathway.

Purpose of the Study:

  • To review the role of PGM3 mutations in hyper-IgE syndromes.
  • To understand the link between PGM3 mutations, glycosylation defects, and immune dysregulation.

Main Methods:

  • Literature review of studies on PGM3 mutations and hyper-IgE syndromes.
  • Analysis of patient data reporting PGM3 mutations and associated phenotypes.
  • Examination of the molecular pathways affected by PGM3 mutations.

Main Results:

  • Autosomal recessive, hypomorphic PGM3 mutations result in a multisystem disorder combining congenital glycosylation disease and hyper-IgE syndrome.
  • PGM3 mutations impair UDP-GlcNAc biosynthesis and the formation of complex N-glycans.
  • Patients exhibit eosinophilia, T-cell proliferation defects, and reversed CD4/CD8 ratios, indicating broad immune system impact.

Conclusions:

  • PGM3 mutations provide a molecular basis for understanding the pathophysiology of hyper-IgE syndromes.
  • Further research into PGM3 is essential for elucidating mechanisms of eczema, IgE dysregulation, and infection susceptibility.
  • This discovery opens avenues for targeted therapeutic strategies for PGM3-related disorders.