Work

A vexing case of a 73‐year‐old man with fevers, orbital cellulitis, and asymptomatic interstitial lung disease

Year: 2024

Type: article

Abstract: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a rare and recently identified disease resulting from a somatic mutation in the X-linked UBA1 gene in cells of myeloid lineage. It can present in a myriad of ways with the potential to affect various organ systems, including the lungs. VEXAS is usually steroid responsive, but no strong data exists for the use of a steroid-sparing agent. There is limited emerging evidence for haematopoietic stem cell transplantation in a select number of cases. Regardless, prognosis for this condition is poor and a treatment algorithm remains a priority. Herein, we present a case of VEXAS that came to attention with discovery of a relatively asymptomatic interstitial lung disease and led to recurrent febrile episodes with evolving multi-organ involvement.

Source: Respirology Case Reports

DOI: 10.1002/rcr2.70020

Authors: Sushil Agwan, Lai‐Ying Zhang, Thomas Baker, Michael Lane, David Godbolt, John A. Mackintosh

Institutions: Prince Charles Hospital, The University of Queensland, Royal Brisbane and Women's Hospital

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,130