Affiliation:
1. Department of Thoracic Medicine The Prince Charles Hospital Chermside Queensland Australia
2. Faculty of Medicine The University of Queensland Herston Queensland Australia
3. Department of Clinical Immunology and Allergy Royal Brisbane and Women's Hospital Herston Queensland Australia
4. Anatomical Pathology The Prince Charles Hospital Chermside Queensland Australia
Abstract
AbstractVEXAS (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.
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2 articles.
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