A case of VEXAS syndrome associated with EBV-associated hemophagocytic lymphohistiocytosis

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Vacuoles, E1, X-linked, autoimmunity, somatic (VEXAS) syndrome is characterized by a pathogenic mutation in UBA1, which leads to protean complications including autoimmunity and myelodysplasia. A 56-year-old man with steroid-dependent, later steroid-refractory cutaneous polyarteritis nodosa and Sweet syndrome developed recurrent daily fever, macrocytic anemia, thrombocytopenia, acute hypoxic respiratory failure, and anasarca. He was eventually diagnosed with Epstein-Barr virus (EBV) viremia and hemophagocytic lymphohistiocytosis (HLH). He improved clinically with rituximab, ruxolitinib, and increased glucocorticoids before expiring from Pseudomonas sepsis. UBA1 exon 3 mutational analysis in myeloid enriched peripheral blood revealed a c.122T>C (p.Met41Thr) pathogenic variant, consistent with VEXAS syndrome. We describe the first case of EBV-associated HLH in a patient diagnosed with VEXAS syndrome. Early identification of this syndrome will be important in order to offer potential therapies before life-threatening complications arise.

Original languageEnglish (US)
Article number102636
JournalBlood Cells, Molecules, and Diseases
StatePublished - Mar 2022

Bibliographical note

Funding Information:
G.M.V. receives research funding from Astellus/Mitobridge and is a consultant. He also receives research funding from CSL Behring. D.R.P. is a consultant for Biogen Inc. Clinical trials principal/sub investigator for Corbus Pharmaceuticals, Elorac, Inc., Eli Lilly and Company, Emerald Health Pharmaceuticals, Kadmon, Inc., Pfizer, Inc., and Soligenix, Inc. None of these are directly relevant to this manuscript or the disease reported therein (VEXAS).

Publisher Copyright:
© 2021 Elsevier Inc.


  • Epstein-Barr virus
  • Hemophagocytic lymphohistiocytosis
  • Polyarteritis nodosa
  • Sweet syndrome
  • UBA1
  • Ubiquitin-proteasome system
  • VEXAS syndrome


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