A vexing case of a 73-year-old man with fevers, orbital cellulitis, and asymptomatic interstitial lung disease.
Sushil AgwanLai-Ying ZhangThomas BakerMichael LaneDavid GodboltJohn A MackintoshPublished in: Respirology case reports (2024)
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.
Keyphrases
- interstitial lung disease
- stem cell transplantation
- systemic sclerosis
- copy number
- rheumatoid arthritis
- high dose
- idiopathic pulmonary fibrosis
- induced apoptosis
- machine learning
- cell cycle arrest
- small molecule
- deep learning
- working memory
- dendritic cells
- bone marrow
- genome wide
- acute myeloid leukemia
- high throughput
- big data
- case report
- robot assisted
- signaling pathway
- endoplasmic reticulum stress
- risk assessment
- combination therapy
- climate change
- cell death
- cell proliferation
- smoking cessation
- chemotherapy induced
- light emitting
- cell fate