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Related Experiment Video

Updated: Aug 16, 2025

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

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Published on: August 20, 2019

An update on VEXAS syndrome.

Adam Al-Hakim¹, Sinisa Savic^1,2,3

¹Department of Clinical Immunology and Allergy, Leeds Teaching Hospitals, NHS Trust, Leeds, UK.

Expert Review of Clinical Immunology

|December 20, 2022

Summary

VEXAS syndrome, a somatic mutation disorder of the UBA1 gene, presents with diverse inflammatory and hematologic issues. Further research is needed to establish diagnostic criteria and optimal treatments for this rare hematoinflammatory condition.

Keywords:

Anti-IL1 E1 ubiquitin ligase JAK inhibitor UBA1 VEXAS anti-IL6 corticosteroids hematoinflammatory diseases hematopoietic stem cell transplant macrocytic anaemia myelodysplastic syndrome relapsing polychondritis sweets syndrome venous thromboembolism

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Area of Science:

Hematology
Immunology
Genetics

Background:

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an acquired autoinflammatory disorder.
It is caused by somatic mutations in the UBA1 gene, leading to hematoinflammatory conditions.
VEXAS syndrome presents with multi-organ involvement and aberrant bone marrow status.

Conclusions:

Consensus diagnostic criteria are needed for VEXAS and related disorders.
Deep sequencing may identify VEXAS-like cases.
Prospective studies are essential to define optimal treatments and stem cell transplant criteria.