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- Title
Characteristic vacuolisation of granulocytic and erythroid precursors associated with VEXAS syndrome.
- Authors
Rieu, Jean‐Baptiste; El Kassir, Ali; Largeaud, Laetitia; Dion, Jeremie; Comont, Thibault; Mansat‐De Mas, Veronique
- Abstract
Next-generation sequencing (NGS) did not reveal any classical MDS mutations but identified a I UBA1 i (ubiquitin-activating enzyme 1) M41L mutation (variant allele frequency 71%). Therefore, in men with severe inflammatory disease associated with haematological abnormalities, these particular vacuoles in myeloid precursors are suggestive of VEXAS syndrome and require screening for I UBA1 i mutation.
- Subjects
BLOOD cell count; SYNDROMES; BONE marrow examination; GENETIC mutation
- Publication
British Journal of Haematology, 2021, Vol 194, Issue 1, p8
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.17381