학술논문
Allogeneic Hematopoietic Cell Transplantation for Vexas Syndrome: Results of a Multicenter Study from the Chronic Malignancies and Autoimmune Disease Working Parties of the EBMT
Document Type
Article
Author
Gurnari, Carmelo; Koster, Linda; Baaij, Laurien; Heiblig, Mael; Yakoub-Agha, Ibrahim; Passweg, Jakob R.; Clay, Jennifer; Kuball, Jurgen; Rambaldi, Alessandro; Hayden, Patrick John; Badoglio, Manuela; Onida, Francesco; Scheid, Christof; Franceschini, Franco; Mekinian, Arsene; Savic, Sinisa; Voso, Maria Teresa; Drozd-Sokolowska, Joanna; Snowden, John; Raj, Kavita; Alexander, Tobias; Robin, Marie; Greco, Raffaella; McLornan, Donal P
Source
Blood; November 2023, Vol. 142 Issue: 1, Number 1 Supplement 1 p708-708, 1p
Subject
Language
ISSN
00064971; 15280020
Abstract
VEXAS is a new entity encompassing a variety of clinical manifestations spanning from autoimmune/auto-inflammatory to hematologic conditions including MDS, plasma cell dyscrasias, and recurrent thrombosis. Somatic mutations of the X-linked UBA1gene in hematopoietic stem and progenitor cells constitute the molecular underpinnings of VEXAS, typically occurring in men during the 6 thdecade of life. Over the last 2 years since its first description, VEXAS has elicited wide medical interest resulting in the identification of pleomorphic clinical phenotypes, which make this syndrome a “big masquerader” and a clinical diagnostic challenge. Treatment strategies aim at suppression of the UBA1-mutant clone (e.g., with azacitidine or allo-HCT) or blockade of the downstream pleiotropic effects of hypercytokinemia. However, no treatment guidelines exist to date, and patients may manifest life-threatening inflammatory symptoms frequently refractory to many therapies. As few literature reports have described the successful use of transplant, we here report the outcomes of patients with VEXAS in a multicenter EBMT registry-based study.