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

Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

892
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
892
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

1.1K
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
1.1K
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

3.1K
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
3.1K
T Cell Types and Functions01:24

T Cell Types and Functions

3.3K
When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
3.3K
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

6.6K
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
6.6K
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

6.0K
6.0K

You might also read

Related Articles

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

Sort by
Same author

Rheumatoid factor production is genetically and molecularly distinct from rheumatoid arthritis.

The Journal of clinical investigation·2026
Same author

Therapeutic Outcomes in VEXAS Syndrome: A Multicenter Comparative Cohort of Allogeneic Hematopoietic Stem Cell Transplantation and Hypomethylating Agents.

American journal of hematology·2026
Same author

Treatment strategies in giant cell arteritis and polymyalgia rheumatica: beyond glucocorticoids.

Nature reviews. Rheumatology·2026
Same author

Significance of positive rheumatoid factor in ANCA-associated vasculitis.

Clinical and experimental rheumatology·2026
Same author

Structured Vascular Segment Analysis for Giant Cell Arteritis: A Proposed Scoring System for CT Angiography-Based Diagnosis.

AJNR. American journal of neuroradiology·2026
Same author

A Delphi exercise informing the development of criteria to measure response to treatment in giant cell arteritis.

Seminars in arthritis and rheumatism·2026

Related Experiment Video

Updated: Apr 7, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

2.0K

Rare Gain-of-Function Variants in IDH1 and IDH2 Confer Increased Risk of Immune-Mediated Rheumatic Diseases.

Mahmut S Kaymakci1, Mehmet Hocaoğlu2, Kenneth J Warrington3

  • 1Department of Medicine, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.

ACR Open Rheumatology
|April 5, 2026
PubMed
Summary

Rare gain-of-function variants in isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) significantly increase the risk of developing immune-mediated rheumatic diseases. This association was particularly noted for rheumatoid arthritis and polymyalgia rheumatica.

More Related Videos

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

7.4K
An Adoptive Transfer Model of Rheumatoid Arthritis in Mice
07:37

An Adoptive Transfer Model of Rheumatoid Arthritis in Mice

Published on: June 6, 2025

1.4K

Related Experiment Videos

Last Updated: Apr 7, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
07:17

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues

Published on: August 23, 2024

2.0K
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

7.4K
An Adoptive Transfer Model of Rheumatoid Arthritis in Mice
07:37

An Adoptive Transfer Model of Rheumatoid Arthritis in Mice

Published on: June 6, 2025

1.4K

Area of Science:

  • Genetics
  • Rheumatology
  • Oncoimmunology

Background:

  • Gain-of-function variants in IDH1 and IDH2 are linked to myeloid neoplasms and autoimmune conditions.
  • The specific relationship between IDH1/IDH2 variants and rheumatic diseases, independent of hematologic cancers, requires further investigation.

Purpose of the Study:

  • To investigate the association between rare gain-of-function (GOF) and loss-of-function (LOF) genetic variants in IDH1 and IDH2 and immune-mediated rheumatic diseases.
  • To determine if IDH1/IDH2 variants increase the risk of rheumatic diseases independently of hematologic neoplasms.

Main Methods:

  • Utilized whole genome sequencing data from the UK Biobank and the All of Us Research Program to identify individuals with IDH1/IDH2 variants.
  • Matched individuals with GOF and LOF variants to controls without these variants by age, sex, and ancestry (1:10 ratio).
  • Compared the frequency of immune-mediated rheumatic diseases between variant carriers and controls using chi-square or Fisher exact tests.

Main Results:

  • In the UK Biobank, individuals with IDH1/IDH2 GOF variants (without hematologic neoplasms) showed a significantly higher incidence of immune-mediated rheumatic diseases (20% vs. 4%, OR=6.6, P=2.7x10^-5).
  • Rheumatoid arthritis and polymyalgia rheumatica were the most frequent rheumatic diseases observed in association with IDH1/IDH2 GOF variants.
  • Replication in the All of Us cohort confirmed an increased odds of incident rheumatic diseases for GOF variant carriers (OR=7.7, P<5x10^-4), predominantly rheumatoid arthritis.
  • No association was found between IDH1/IDH2 LOF variants and immune-mediated rheumatic diseases in either cohort.

Conclusions:

  • Rare gain-of-function variants in IDH1/IDH2 are associated with an elevated risk of immune-mediated rheumatic diseases.
  • The findings highlight a specific link between IDH1/IDH2 GOF variants and conditions like rheumatoid arthritis and polymyalgia rheumatica.