#2 Emma Groarke: VEXAS syndrome

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Trainee Pearls

The EBMT Trainee Committee

16 episodes

2 days ago

Welcome to “Trainee Pearls”, a new initiative brought to you by the EBMT Trainee Committee to deliver the most important messages (“the pearls”) of high-profile research works in hematology and bone marrow transplant to our fellow trainees all over the world. The topics will span from classical hematology to more focused bone marrow transplant research. The selected research article will be discussed directly with young authors who have been involved with the published work.

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#2 Emma Groarke: VEXAS syndrome

Trainee Pearls

30 minutes 50 seconds

3 years ago

#2 Emma Groarke: VEXAS syndrome

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described autoinflammatory syndrome characterized by diffuse inflammatory manifestations, predisposition to hematological malignancy, and an association with a high rate of thrombosis. VEXAS is attributed to somatic mutations in the UBA1 gene in hematopoietic stem and progenitor cells with myeloid restriction in mature forms.

Join our conversation with Emma Groarke from the National Cancer Institute, USA, to understand how it was discovered and more.

Article: https://www.nejm.org/doi/10.1056/NEJMoa2026834?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub++0pubmed