VEXAS syndrome in a female with constitutional monosomy X.

The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disorder that is caused by an acquired deficiency of the UBA1 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 UBA1 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.