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

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Graves' Disease I: Introduction01:28

Graves' Disease I: Introduction

Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...

You might also read

Related Articles

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

Sort by
Same author

Alkamines reveal a hidden layer of steroid and drug metabolism.

bioRxiv : the preprint server for biology·2026
Same author

Association of Epigenetic Trajectory With Development of Clinical Rheumatoid Arthritis in Individuals With Anti-Citrullinated Protein Antibody Positivity: Targeting Immune Responses for Prevention of Rheumatoid Arthritis (TIP-RA).

Arthritis & rheumatology (Hoboken, N.J.)·2026
Same author

Potential role of bile acids as a microbiome-derived mechanism in synovitis of knee osteoarthritis synovitis.

Osteoarthritis and cartilage·2026
Same author

A searchable metadata network graph for microbiome metabolomics.

bioRxiv : the preprint server for biology·2026
Same author

Altered fibroblast-like synoviocyte epigenetics is responsible for deficient NUB1 expression in rheumatoid arthritis.

Scientific reports·2026
Same author

MS/MS Mass Spectrometry Filtering Tree for Bile Acid Isomer Annotation.

bioRxiv : the preprint server for biology·2026
Same journal

The young adult with Juvenile Idiopathic Arthritis (JIA): A clinical review of transition, complications, and psychosocial management.

Best practice & research. Clinical rheumatology·2026
Same journal

Impact of fatigue on rheumatic diseases: Current perspectives.

Best practice & research. Clinical rheumatology·2026
Same journal

Pneumocystis prophylaxis in rheumatic disease.

Best practice & research. Clinical rheumatology·2026
Same journal

Cutaneous manifestations in myositis syndromes.

Best practice & research. Clinical rheumatology·2026
Same journal

Systemic sclerosis: A comprehensive systematic review of global epidemiology, sex and ethnic disparities, disease burden, and organ-specific involvement.

Best practice & research. Clinical rheumatology·2026
Same journal

Alopecia across the spectrum of rheumatic disease.

Best practice & research. Clinical rheumatology·2026
See all related articles

Related Experiment Video

Updated: May 18, 2026

Antibody Transfection into Neurons as a Tool to Study Disease Pathogenesis
06:56

Antibody Transfection into Neurons as a Tool to Study Disease Pathogenesis

Published on: September 26, 2012

IgG4-related diseases.

Monica Guma1, Gary S Firestein

  • 1Division of Rheumatology, Allergy and Immunology, UC San Diego, School of Medicine, La Jolla, CA, USA. mguma@ucsd.edu

Best Practice & Research. Clinical Rheumatology
|October 9, 2012
PubMed
Summary
This summary is machine-generated.

Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a systemic condition affecting multiple organs. Recognizing IgG4-RD is crucial for appropriate treatment, distinguishing it from organ-specific autoimmune diseases.

More Related Videos

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

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

Related Experiment Videos

Last Updated: May 18, 2026

Antibody Transfection into Neurons as a Tool to Study Disease Pathogenesis
06:56

Antibody Transfection into Neurons as a Tool to Study Disease Pathogenesis

Published on: September 26, 2012

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

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

Area of Science:

  • Immunology
  • Rheumatology
  • Pathology

Background:

  • Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) emerged as a systemic condition in 2003.
  • Initial research linked pancreatic autoimmunity with elevated IgG4 and IgG4-positive plasma cells.

Purpose of the Study:

  • To highlight the systemic nature of IgG4-related disease.
  • To emphasize the common pathological features across affected organs.
  • To stress the importance of differentiating IgG4-RD from organ-specific autoimmune diseases for effective management.

Main Methods:

  • Review of existing literature and case studies.
  • Pathological analysis of affected tissues.
  • Clinical observation of treatment responses.

Main Results:

  • IgG4-RD can affect virtually any organ.
  • Key pathological features include dense IgG4-positive plasma cell infiltrates and storiform fibrosis.
  • Elevated serum IgG4 concentrations are frequently observed.

Conclusions:

  • IgG4-RD is a multi-organ disease with characteristic pathology.
  • Steroid therapy is often effective, but other immunosuppressants may be needed.
  • Accurate diagnosis is essential for guiding therapeutic strategies.