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

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...
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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 disorders...
Development of Immunocompetence01:22

Development of Immunocompetence

The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
NF-κB-dependent Signaling Pathway02:26

NF-κB-dependent Signaling Pathway

The transcription factor NF-κB was discovered in 1986 in the lab of Nobel laureate Professor David Baltimore, for its interaction with the immunoglobulin light chain enhancer in B-cells. After more than three decades of study, it is now evident that NF-κB regulates the expression of over 100 genes. Most of these genes play an essential role in the innate and adaptive immune responses as well as the inflammatory responses of animals.
NF-κB-dependent Signaling Mechanism
The heterodimer of NF-κB...
Humoral Immune Responses01:36

Humoral Immune Responses

Overview
Cells of the Innate Immune Response01:28

Cells of the Innate Immune Response

The innate immune response is an immediate and non-specific response against pathogens, acting swiftly to prevent the spread of infections. The primary cells involved in this response are phagocytes and natural killer (NK) cells.
Phagocytes
Phagocytes police the peripheral tissues by removing cellular debris and responding to the invasion of foreign substances or pathogens. Many phagocytes attack and remove microorganisms even before lymphocytes detect them. The human body has two general...

You might also read

Related Articles

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

Sort by
Same author

Runx-CBFβ regulates the development of tolerogenic Thetis cells.

Nature immunology·2026
Same author

Healthcare resources for inborn errors of immunity in the Asia-Pacific region.

Journal of human immunity·2026
Same author

Polyclonal evolution of lymphoproliferative disorders in XLP1.

Journal of human immunity·2026
Same author

The 2024 update of IUIS phenotypic classification of human inborn errors of immunity.

Journal of human immunity·2026
Same author

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.

Journal of human immunity·2026
Same author

The OAS-RNase L pathway: Insights from experiments of nature.

Science immunology·2026

Related Experiment Video

Updated: May 23, 2026

Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice
08:09

Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice

Published on: March 24, 2017

IKZF-associated inborn errors of immunity.

Motoi Yamashita1,2, Tomohiro Morio3

  • 1Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.

Journal of Human Immunity
|May 22, 2026
PubMed
Summary

Transcription factors IKAROS, HELIOS, and AIOLOS (IKZF proteins) are crucial for immune cell function. Variants in these genes cause diverse inborn errors of immunity (IEI) with varied clinical presentations.

More Related Videos

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
07:58

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes

Published on: March 6, 2019

Native Polyacrylamide Gel Electrophoresis Immunoblot Analysis of Endogenous IRF5 Dimerization
08:57

Native Polyacrylamide Gel Electrophoresis Immunoblot Analysis of Endogenous IRF5 Dimerization

Published on: October 6, 2019

Related Experiment Videos

Last Updated: May 23, 2026

Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice
08:09

Vasodilation of Isolated Vessels and the Isolation of the Extracellular Matrix of Tight-skin Mice

Published on: March 24, 2017

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
07:58

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes

Published on: March 6, 2019

Native Polyacrylamide Gel Electrophoresis Immunoblot Analysis of Endogenous IRF5 Dimerization
08:57

Native Polyacrylamide Gel Electrophoresis Immunoblot Analysis of Endogenous IRF5 Dimerization

Published on: October 6, 2019

Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • IKAROS, HELIOS, and AIOLOS (IKZF) proteins are transcription factors vital for hematopoietic cell development and immune system regulation.
  • These proteins form complexes with themselves and other proteins, influencing gene expression in various immune cell types.
  • Germline variants in IKZF genes lead to inborn errors of immunity (IEI), impacting immune cell function and potentially causing malignancies.

Purpose of the Study:

  • To summarize the role of IKZF proteins in immune cell function and transcriptional regulation.
  • To describe the spectrum of inborn errors of immunity (IEI) caused by germline variants in IKZF1, IKZF2, and IKZF3.
  • To highlight the phenotypic heterogeneity observed in patients with IKZF-associated IEI and discuss potential therapeutic strategies.

Main Methods:

  • Review of existing literature on IKZF proteins, their variants, and associated immune disorders.
  • Analysis of genotype-phenotype correlations in patients with IKZF-associated IEI.
  • Discussion of current and emerging therapeutic approaches for IKZF-related immune deficiencies.

Main Results:

  • Loss-of-function variants in IKZF1, IKZF2, and IKZF3 cause IKAROS, HELIOS, and AIOLOS deficiencies, respectively, leading to IEI.
  • Gain-of-function variants in IKZF1 cause IKAROS-GOF disease with autoimmune and allergic symptoms.
  • Dominant-negative variants in IKZF1 and IKZF3 are linked to combined immunodeficiency, with significant phenotypic variability among patients.

Conclusions:

  • IKZF proteins play a critical role in immune homeostasis, and their dysfunction due to genetic variants results in a range of IEI.
  • Phenotypic heterogeneity in IKZF-associated IEI likely arises from the diverse protein complexes formed by IKZF proteins.
  • Targeted therapies are being explored for conditions like IKAROS-GOF disease, alongside supportive care and hematopoietic stem cell transplantation for severe cases.