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

The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

10.0K
Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
10.0K
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

1.4K
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...
1.4K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

495
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...
495
Mismatch Repair01:20

Mismatch Repair

5.7K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
5.7K
Mismatch Repair01:36

Mismatch Repair

42.4K
Overview
42.4K
Genome Copying Errors02:46

Genome Copying Errors

4.7K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
4.7K

You might also read

Related Articles

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

Sort by
Same author

Serum cytokine profiling reveals distinct inflammatory signatures in Kawasaki disease and MIS-C and suggests associations with coronary artery lesions.

Pediatric research·2026
Same author

Comparison of Peripheral Small-sized Lung Adenocarcinoma and Squamous Cell Carcinoma.

In vivo (Athens, Greece)·2026
Same author

Thalidomide for CGD-related inflammatory bowel disease: A randomized, double-blind trial.

Journal of human immunity·2026
Same author

Poststreptococcal acute glomerulonephritis superimposed on chronic kidney disease due to dysplastic kidney in an 11-year-old boy.

CEN case reports·2026
Same author

Age-dependent electroclinical evolution from focal seizures to epileptic spasms in NUSAP1-related malformations of cortical development.

Epileptic disorders : international epilepsy journal with videotape·2026
Same author

Growth hormone therapy after hematopoietic cell transplantation in childhood: a nationwide survey and longitudinal cohort study.

Frontiers in endocrinology·2026
Same journal

A blind spot of human T cell immunology: epitope specificity in secondary lymphoid organs.

Current opinion in immunology·2026
Same journal

Germinal center responses at barrier organ sites.

Current opinion in immunology·2026
Same journal

Ocular sarcoidosis: from clinical signs to targeted interventions.

Current opinion in immunology·2026
Same journal

On or within: spatial determinants of antigen handling in the nasal turbinates.

Current opinion in immunology·2026
Same journal

Decoding the complexity of intestinal immunity with spatial transcriptomics.

Current opinion in immunology·2026
Same journal

Reconsidering the immunological aspects of solid-phase assays for antiphospholipid antibodies detection.

Current opinion in immunology·2026
See all related articles

Related Experiment Video

Updated: Nov 9, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.2K

Inborn errors of STAT1 immunity.

Yoko Mizoguchi1, Satoshi Okada1

  • 1Department of Pediatrics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.

Current Opinion in Immunology
|April 11, 2021
PubMed
Summary
This summary is machine-generated.

Signal transducer and activator of transcription 1 (STAT1) is crucial for immunity. Genetic defects in STAT1 cause four distinct immune disorders with varied clinical presentations, highlighting its complex role in host defense.

More Related Videos

Assessing Somatic Hypermutation in Ramos B Cells after Overexpression or Knockdown of Specific Genes
08:12

Assessing Somatic Hypermutation in Ramos B Cells after Overexpression or Knockdown of Specific Genes

Published on: November 1, 2011

20.1K
Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts
11:19

Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts

Published on: October 9, 2016

15.2K

Related Experiment Videos

Last Updated: Nov 9, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.2K
Assessing Somatic Hypermutation in Ramos B Cells after Overexpression or Knockdown of Specific Genes
08:12

Assessing Somatic Hypermutation in Ramos B Cells after Overexpression or Knockdown of Specific Genes

Published on: November 1, 2011

20.1K
Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts
11:19

Merging Absolute and Relative Quantitative PCR Data to Quantify STAT3 Splice Variant Transcripts

Published on: October 9, 2016

15.2K

Area of Science:

  • Immunology
  • Molecular Biology
  • Genetics

Background:

  • Signal transducer and activator of transcription 1 (STAT1) is a key transcription factor in immune responses.
  • STAT1 is activated by interferons and interleukins, playing a critical role in host defense.
  • Dysregulation of STAT1 signaling can lead to severe immune deficiencies.

Purpose of the Study:

  • To delineate the distinct human disorders arising from inborn errors of STAT1 immunity.
  • To understand the clinical manifestations associated with different STAT1 deficiencies.
  • To elucidate the complex roles of STAT1 in fine-tuning host immune systems.

Main Methods:

  • Review of genetic and clinical data from patients with STAT1-related immune disorders.
  • Analysis of STAT1 activation pathways and downstream signaling.
  • Correlation of genetic defects with clinical phenotypes.

Main Results:

  • Identified four distinct disorders: AR complete STAT1 deficiency, AR partial STAT1 deficiency, AD STAT1 deficiency, and AD STAT1 gain-of-function.
  • Clinical manifestations varied across the four disorders, with severity differentiating the AR forms.
  • STAT1's multifaceted roles and finely tuned signaling are essential for immune homeostasis.

Conclusions:

  • Inborn errors of STAT1 lead to a spectrum of immune disorders with distinct clinical features.
  • STAT1 plays a complex and critical role in regulating host immune responses.
  • Understanding STAT1 function is crucial for diagnosing and managing these genetic immune deficiencies.