Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Alzheimer's Disease: Overview

Alzheimer's Disease: Overview

Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...

Gene Therapy

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...

iPS Cell Differentiation

iPS Cell Differentiation

The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.

You might also read

Related Articles

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

Sort by

Same author

Two novel kindreds with autosomal recessive STAT2 deficiency.

Journal of human immunity·2026

Same author

ADA2 genotype and enzyme activity may predict vasculitic or hematologic DADA2 phenotype.

Journal of human immunity·2026

Same author

Entering the era of somatic variant sequencing in immune dysregulation: comment on the article by Fu et al.

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

Same author

Homozygosity for rare or common hypomorphic <i>IL23R</i> variants confers a predisposition to tuberculosis in humans.

bioRxiv : the preprint server for biology·2026

Same author

ADA2-deficient cells exhibit increased levels of cell death and metabolic disturbances.

Cell death discovery·2026

Same author

Discovering patterns in the pathologic significance of non-missense deleterious variants in RELA.

The Journal of allergy and clinical immunology·2026

Same journal

Harnessing Machine Learning and Electronic Health Record Data to Improve Asthma Management.

Current allergy and asthma reports·2026

Same journal

Incorporating New Guidelines into School-Based Asthma Management.

Current allergy and asthma reports·2026

Same journal

The Modern Environment and Childhood Asthma: The Role of Air Pollution and Heavy Metal Exposure.

Current allergy and asthma reports·2026

Same journal

Targeting Type 2 and Non-type 2 Asthma: Emerging Biologics and Personalized Strategies.

Current allergy and asthma reports·2026

Same journal

The Role of the Indoor Exposome in Food Allergy Development.

Current allergy and asthma reports·2026

Same journal

Understanding Infantile Atopic Dermatitis: A Review of Environmental, Familial, Genetic and Microbial Influences.

Current allergy and asthma reports·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Jun 21, 2025

Digital Droplet PCR Method for the Quantification of AAV Transduction Efficiency in Murine Retina

Digital Droplet PCR Method for the Quantification of AAV Transduction Efficiency in Murine Retina

Published on: December 25, 2021

Human ADA2 Deficiency: Ten Years Later.

Marjon Wouters¹, Lisa Ehlers², Mariia Dzhus²

¹Laboratory for Inborn Errors of Immunity, Microbiology Immunology and Transplantation, KU Leuven, Louvain, Belgium. Isabelle.Meyts@uzleuven.be.

Current Allergy and Asthma Reports

|July 6, 2024

Summary

This summary is machine-generated.

Adenosine deaminase type 2 deficiency (DADA2) causes vasculitis and immunodeficiency. Research shows endothelial instability is key, but ADA2's exact role needs more study for better treatments.

Keywords:

ADA2 Bone marrow failure Stroke TNF Inhibition

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Author Spotlight: Advancing Cellular and Protein Engineering to Control Biological Functions and Develop Novel Therapies

Author Spotlight: Advancing Cellular and Protein Engineering to Control Biological Functions and Develop Novel Therapies

Published on: September 27, 2024

Related Experiment Videos

Last Updated: Jun 21, 2025

Digital Droplet PCR Method for the Quantification of AAV Transduction Efficiency in Murine Retina

Digital Droplet PCR Method for the Quantification of AAV Transduction Efficiency in Murine Retina

Published on: December 25, 2021

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Author Spotlight: Advancing Cellular and Protein Engineering to Control Biological Functions and Develop Novel Therapies

Author Spotlight: Advancing Cellular and Protein Engineering to Control Biological Functions and Develop Novel Therapies

Published on: September 27, 2024

Area of Science:

Immunology
Genetics
Rheumatology

Background:

Adenosine deaminase type 2 deficiency (DADA2) is a rare genetic disorder.
Patients present with a spectrum of symptoms including vasculitis, immunodeficiency, and bone marrow failure.
Despite being described a decade ago, the underlying pathophysiology remains incompletely understood.

Purpose of the Study:

To provide an updated review of current knowledge on DADA2.
To highlight pending questions regarding its pathophysiology and treatment.
To emphasize the need for further research into ADA2's physiological role.

Main Methods:

This is a review article, synthesizing existing research and clinical findings.
It analyzes recent advances in understanding DADA2.
Focuses on the role of adenosine deaminase type 2 (ADA2) and its implications.

Main Results:

Endothelial instability, driven by increased proinflammatory macrophage development, is central to DADA2 pathophysiology.
The precise physiological function of ADA2 is debated, with hypotheses suggesting an intracellular role.
Anti-TNF therapy (TNFi) shows success in treating DADA2 manifestations, but not bone marrow failure.

Conclusions:

Significant progress has been made in understanding DADA2.
Further investigation into the physiological role of ADA2 is crucial.
Enhanced knowledge is needed to develop improved therapies, particularly for bone marrow complications.