VEXAS syndrome in a female with constitutional monosomy X

<h2>ABSTRACT</h2> The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disorder that is caused by an acquired deficiency of the <i>UBA1</i> gene in haematopoietic progenitor cells and predominantly affects elderly males. However, ultrarare cases of female VEXAS patients with acquired X chromosome monosomy in the bone marrow along with an additional mutation in <i>UBA1</i> have been reported. Herein, we report the case of 84-year-old female patie that developed the VEXAS syndrome in the context of constitutional monosomy X (Turner syndrome). The present case challenges the pervasive conception of the VEXAS syndrome as a disease confined to elderly males and informs the diagnostic considerations of clinicians.