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VEXAS syndrome 5

VEXAS syndrome 5
#00065241
Author: Meredith Herman, DO; Francisco Reyes, MD; Orlando Quincoces, MD
Category: Myeloid Neoplasms and acute leukemia (WHO 2016)
Published Date: 11/03/2024

Adult male with fever, skin lesions, and inflammatory arthritis who was found to have UBA1 p.Met41Leu pathogenic variant. Bone marrow studies showed hypercellular bone marrow with dyserythropoiesis and cytoplasmic vacuolization of 
erythroid and myeloid precursors. Peripheral blood showed macrocytic anemia with polychromasia and occasional 
dacryocytes, adequate neutrophils with toxic granulation and slight left 
shift.