Related Experiment Video
Updated: Sep 17, 2025
09:37
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.9K
Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome With Multisystem Involvement: Imaging and
Lauren E Arsenault1, Sumeet Virmani1, Pokhraj P Suthar1
1Department of Diagnostic Radiology and Nuclear Medicine, Rush University Medical Center, Chicago, USA.
Cureus
|July 2, 2025
Summary
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a severe autoinflammatory disorder caused by UBA1 gene mutations. Early diagnosis and treatment are crucial for managing this condition in older males.
Area of Science:
- Immunology
- Genetics
- Hematology
Background:
- Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently identified, severe autoinflammatory disorder.
- It is caused by somatic mutations in the UBA1 gene, leading to innate immune dysregulation.
Observation:
- A case of an 85-year-old male with recurrent, multisystem inflammation affecting the ears, nose, skin, lungs, and hematologic system.
- Clinical presentation included cytopenias, elevated inflammatory markers, cartilaginous inflammation, and pulmonary infiltrates.
Findings:
- Bone marrow biopsy revealed vacuolated myeloid precursors.
- Genetic testing confirmed a UBA1 mutation (p.Met41Val), establishing the VEXAS syndrome diagnosis.
- Treatment with tocilizumab and corticosteroids resulted in significant clinical improvement.
Implications:
- This case underscores the importance of considering VEXAS syndrome in older males with unexplained systemic inflammation and hematologic abnormalities.
- Timely diagnosis and appropriate management, including targeted therapies, are essential for improving patient outcomes.
Related Concept Videos
01:33Pleiotropy
41.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.2K
01:22Lysosomal Hydrolases
3.9K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.9K
01:38Intralumenal Vesicles and Multivesicular Bodies
3.7K
Intraluminal vesicles (ILVs) are small vesicles 50-80 nm in diameter formed during the maturation of early endosomes. A specialized endosome containing numerous ILVs is called a multivesicular body (MVB). ILVs contain internalized molecules such as antigens, nucleic acids, proteins, and metabolites. Some of these molecules are released from the MVBs inside exosomes and are transported to other cells. Other MVBs contain molecules that are retained in the ILVs and are later degraded within the...
3.7K
01:21Smooth Endoplasmic Reticulum
6.2K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
6.2K
01:19X-linked Traits
55.3K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
55.3K
01:35Pedigree Analysis
85.4K
Overview
85.4K