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

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

2.7K
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...
2.7K
Mutations01:39

Mutations

95.1K
Overview
95.1K
Mutations01:35

Mutations

44.9K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.9K
Antigens Involved in Adaptive Immunity01:26

Antigens Involved in Adaptive Immunity

1.7K
An antigen is any substance the immune system identifies as foreign and potentially harmful to the body, prompting an immune response. Antigens have two functional properties: immunogenicity and reactivity. Immunogenicity is the ability of an antigen to stimulate a specific immune response. At the same time, reactivity describes the antigen's ability to react with the cells and antibodies produced in response to it.
Complete Antigens
Complete antigens possess both immunogenicity and...
1.7K
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

2.5K
Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
2.5K
Mismatch Repair01:20

Mismatch Repair

6.8K
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...
6.8K

You might also read

Related Articles

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

Sort by
Same author

Comparison of the effects of low-irradiance and high-irradiance phototherapy on non-hemolytic neonatal jaundice.

Scientific reports·2026
Same author

Response to recombinant human granulocyte colony-stimulating factor in reticular dysgenesis.

Journal of human immunity·2026
Same author

Efficacy and safety of multimodality therapy stratified by resection rate and molecular markers in children and adolescents with ependymoma: JCCG EPN23 protocol.

Japanese journal of clinical oncology·2026
Same author

Reticular Dysgenesis in an Extremely Low Birth Weight Infant: A Case Report.

Journal of clinical immunology·2026
Same author

Clinical features and prognostic factors of adult systemic chronic active EBV disease: A retrospective analysis in Japan.

British journal of haematology·2026
Same author

Clinical and molecular characterization of thrombocytosis in transient abnormal myelopoiesis.

Leukemia·2026

Related Experiment Video

Updated: Mar 2, 2026

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

20.4K

Common Variable Immunodeficiency Caused by FANC Mutations.

Yujin Sekinaka1, Noriko Mitsuiki2, Kohsuke Imai3,4

  • 1Department of Pediatrics, National Defense Medical College, Saitama, Japan.

Journal of Clinical Immunology
|May 12, 2017
PubMed
Summary
This summary is machine-generated.

Mutations in FANC genes cause adult-onset common variable immunodeficiency (CVID) by impairing B cell and T cell development. This discovery highlights a new genetic cause for CVID and suggests immune abnormalities are common in Fanconi anemia patients.

Keywords:
Common variable immunodeficiencyFanconi anemiaT-cell receptor excision circles (TRECs)lymphopoiesisprimary immunodeficienciessignal joint kappa-deleting recombination excision circles (sjKRECs)

More Related Videos

Author Spotlight: Advancing Immune Monitoring in Critical Care Patients Using Whole Blood Assays
06:03

Author Spotlight: Advancing Immune Monitoring in Critical Care Patients Using Whole Blood Assays

Published on: September 20, 2024

1.9K
Author Spotlight: Elucidating the Pathways of TFH Cell Differentiation in Acute LCMV Challenges
05:03

Author Spotlight: Elucidating the Pathways of TFH Cell Differentiation in Acute LCMV Challenges

Published on: April 26, 2024

1.3K

Related Experiment Videos

Last Updated: Mar 2, 2026

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

20.4K
Author Spotlight: Advancing Immune Monitoring in Critical Care Patients Using Whole Blood Assays
06:03

Author Spotlight: Advancing Immune Monitoring in Critical Care Patients Using Whole Blood Assays

Published on: September 20, 2024

1.9K
Author Spotlight: Elucidating the Pathways of TFH Cell Differentiation in Acute LCMV Challenges
05:03

Author Spotlight: Elucidating the Pathways of TFH Cell Differentiation in Acute LCMV Challenges

Published on: April 26, 2024

1.3K

Area of Science:

  • Immunology
  • Genetics
  • Hematology

Background:

  • Common variable immunodeficiency (CVID) is a primary antibody deficiency often diagnosed in adulthood.
  • While various genes are implicated in CVID, novel genetic causes are continually being identified through advanced sequencing techniques.
  • Recent studies have utilized whole exome sequencing (WES) to uncover new genetic underpinnings of CVID.

Purpose of the Study:

  • To investigate the role of FANC gene mutations in adult-onset CVID.
  • To characterize the immunological phenotype of patients with FANC mutations presenting as CVID.
  • To assess the prevalence of immunological abnormalities in individuals with Fanconi anemia (FA).

Main Methods:

  • Whole exome sequencing (WES) was performed on two patients with adult-onset CVID.
  • Immunological evaluations, including lymphocyte subset analysis and quantification of T-cell receptor and signal joint kappa-deleting recombination excision circles (TRECs/sjKRECs), were conducted.
  • Functional assays such as monoubiquitination assays and chromosome fragility tests were used to confirm impaired FANC protein complex function.
  • Immunological assessments were extended to 32 individuals diagnosed with Fanconi anemia (FA).

Main Results:

  • Two patients with adult-onset CVID were found to have FANC gene mutations (compound heterozygous FANCE mutations in one, homozygous FANCA mutation in the other).
  • These patients exhibited absent B cells, skewed CD4+ T cell populations towards memory cells, and undetectable TRECs/sjKRECs.
  • Functional tests confirmed impaired FANC protein complex activity.
  • Among 32 FA patients studied, 22 (68.8%) presented with immunological abnormalities.

Conclusions:

  • FANC gene mutations are a newly identified cause of adult-onset CVID, potentially due to impaired lymphogenesis from DNA replication stress.
  • Immunological abnormalities, including those seen in CVID, appear to be common in patients with Fanconi anemia.
  • Diagnosing FA is crucial as FANC mutations can lead to isolated immunodeficiency, distinct from or in addition to bone marrow failure and malignancy.