Table 2.

Three cases of VEXAS syndrome

Characteristic	Case 1	Case 2	Case 3
UBA1 mutation (VAF)	p.Met41Val (1.5%)	p.Met41Leu (6.9%)	p.Met41Thr (35%)
Age at the diagnosis of MDS	48	63	70
Age at HCT	49	66	71
Sex	Male	Male	Male
Diagnosis	MDS-IB1	MDS-LB	MDS-LB
Cytogenetic abnormality	+ 8	Normal	+ 8 [15/20]
IPSS	Intermediate-2	Intermediate-1	Intermediate-1
Inflammatory symptoms	N/A	N/A	Fever, erythema nodosum
HCT-CI score	4 (arrhythmia, cardiovascular dysfunction, and lung function)	0	2 (cardiovascular dysfunction, cerebrovascular dysfunction,
Treatment before HCT	Induction chemotherapy, complete response	Azacitidine, partial response	Corticosteroid, partial response
Time from the diagnosis of MDS to HCT	15 months	29 months	8 months
HCT type	Unrelated BMT	Unrelated BMT	Unrelated BMT
Donor sex	Female	Male	Male
ABO disparity	Minor mismatch	Major mismatch	Match
HLA disparity (A, B, C, DRB1)	1/8 mismatch	Match	Match
Conditioning	FLU/BU2	FLU/BU4	FLU/BU2/TBI
GVHD prophylaxis	TAC + MTX	CSA + MTX	TAC + MTX + rATG
Engraftment	Day 16	Day 15	Day 19
Acute GVHD	Grade I (skin stage 2), spontaneous regression	None	Grade II (skin stage 3), regressed with systemic corticosteroid
Chronic GVHD	None	None	None
Chimerism after engraftment	Complete donor chimerism	Complete donor chimerism	Donor dominant > 95%
Complications	VZV reactivation	None	EBV reactivation, CMV retinitis, PCP
Outcome	Died of idiopathic pneumonia syndrome 5 months after BMT	Alive without relapse 28 months after BMT	Died of idiopathic pneumonia syndrome 28 months after BMT

BU busulfan, CI comorbidity index, CMV cytomegalovirus, CSA cyclosporin, EBV Epstein–Barr virus, FLU fludarabine, IPSS international prognostic scoring system, PCP pneumocystis pneumonia, rATG rabbit antithymocyte globulin, TAC tacrolimus, TBI total body irradiation, VZV varicella zoster virus