Search

Summary: Azacitidine can be effective in myelodysplastic syndromes (MDS) associated with inflammatory/autoimmune diseases. Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory, Somatic syndrome (VEXAS) is a new monogenic autoinflammatory syndrome caused by somatic ubiquitin‐like modifier‐activating enzyme 1 (UBA1) mutation, often associated with MDS, whose treatment is difficult and not yet codified. Based on a French nationwide registry of 116 patients with VEXAS, we report the efficacy and safety of azacitidine treatment in 11 patients with VEXAS with MDS. Clinical response of VEXAS to azacitidine was achieved in five patients (46%), during 6, 8+, 12, 21, 27+ months respectively, suggesting that azacitidine can be effective in selected patients with VEXAS and associated MDS. [ABSTRACT FROM AUTHOR]

Keywords: APDS; vasculitis; hypogammaglobulinemia; immunodeficiency; toxoplasmosis; PI3KCD EN APDS vasculitis hypogammaglobulinemia immunodeficiency toxoplasmosis PI3KCD 688 690 3 04/21/22 20220401 NES 220401 Supplementary Information The online version contains supplementary material available at https://doi.org/10.1007/s10875-021-01186-1. Vasculitis, hypogammaglobulinemia, immunodeficiency, toxoplasmosis, APDS, PI3KCD. [Extracted from the article]

Next-generation sequencing (NGS) did not reveal any classical MDS mutations but identified a I UBA1 i (ubiquitin-activating enzyme 1) M41L mutation (variant allele frequency 71%). Therefore, in men with severe inflammatory disease associated with haematological abnormalities, these particular vacuoles in myeloid precursors are suggestive of VEXAS syndrome and require screening for I UBA1 i mutation. [Extracted from the article]