Concurrent inhibited erythropoiesis in a case of VEXAS syndrome

Abstract

x syndrome with progressive worsening of pancytopenia. He had concurrent inhibited erythropoiesis but normal granulopoiesis and megakaryopoiesis, resembling pure red cell aplasia (PRCA) -a manifestation not previously described in the context of VEXAS syndrome. Case descriptionA 55-year-old male with a one-year history of skin lesions presented to our hospital in July 2020. The patient had developed scattered skin lesions, including papules, erythematous plaque, and petechiae, on the trunk and limbs since 2019. He had been treated with prednisone, at an unknown dose, for half a year with a diagnosis of vasculitis by a local hospital. Upon admission to our hospital, a complete blood count showed a white blood cell count of 1.87 × 10 9 /L, a neutrophil count of 0.81 × 10 9 /L, and a lymphocyte count of 0.85 × 10 9 /L. Hemoglobin and platelet levels were within normal range. Flow cytometry analysis of peripheral blood indicated 21.35% abnormal T large granular lymphocytes (T-LGL) with an immunotype of CD3 pos , CD57 pos , CD8 pos , perforin pos , and granzymeB pos . Clonal rearrangement of T-cell receptor gamma (TCRγ) was positive. However, since the absolute count of T-LGL was less than 0.5 × 10 9 /L, a diagnosis of large granular lymphocyte leukemia was not established. The patient was managed with a watch-andwait strategy. During this time, he was given topical medication to alleviate skin symptoms.In March 2022, the patient was readmitted to our hospital due to recurrent fever, with the highest temperature reaching 38.5 °C, and the persistence of skin lesions (Fig. 1A, B).Lingxiao Xing, Weiru Liang those two authors contributed equally to this work.