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. 2021 Nov 17;5(12):e661. doi: 10.1097/HS9.0000000000000661

Table 1.

Clinical Characteristics of Three Cases of VEXAS Syndrome Treated With Azacytidine.

Case 1 Case 2 Case 3
Mutation UBA1a[first presentation] c.122T>Cb
(VAF 86%)
p.Met41Thr
c.121A>Gc
(VAF 56%)
p.Met41Val
c.122T>Cc
(VAF 86%)
p.Met41Thr
Co-occurring mutations DNMT3Ad
c.2062C>
T(VAF 59%)f
Arg688Cys
DNMT3Ad
c.2645G>A
(VAF 30%)
Arg882His
TET2e
c.2290dup
(VAF4%)
p.(Gln764Profs*5)
Year of first symptoms 2009 2018 2011
Follow-up Alive Alive Alive
Age at presentation (year) 61 77 67
Fever + + +
Sweet syndrome + +
Cutaneous small-vessel vasculitis + + +
Chondritis + +
Pulmonary infiltrates +
Venous thromboembolism
Scleritis + +
Periorbital inflammation +
Abducens paralysis
Axonal polyneuropathy + +
Macrocytic anemia + + +
Thrombocytopenia + +
Leukopenia +
C-reactive protein (mg/L)g median (range) 189
(62–183)
160
(58–221)
150
(182–343)
ESR (mm/h)
 median (range)
119
(98–150)
115
(49–150)
109
(50–119)
Bone marrow vacuoles
 Erythropoiesis + +
 Granulopoiesis + + +
Bone marrow dysplasia, range dysplasia score
  Erythropoiesis <10%−39% 0%−3% 10%−26%
  Granulopoiesis 2%−14% 0%−12% 4%−19%
  Megakaryopoiesis 0%−47% 0%−13% 22%−23%
Bone marrow blast percentage <2% <2% <5%
Bone marrow cytogenetics 46XY 46XY 46XY
Response to corticosteroids ± ± ±
Response to colchicin N/A N/A
Response to DMARDs
Response to anti-TNFα N/A N/A
Response to IVIG N/A N/A
Response to ESA N/A
Response to azacytidine + +

aNM_003334.3 (UBA1).

bBone marrow.

cPeripheral blood.

dNM_022552.4 (DNMT3A).

fSince the DNA for the detection of this DNMT3A variant at diagnosis was of limited quantity and quality no conclusion other than that the majority of cells carry a DNMT3A mutation can be drawn.

gValues at flares of disease to avoid bias by treatment or intercurrent infections.

DMARDs = disease modifying antirheumatic drugs: azathioprine, mycophenolate, methotrexate; ESA = erythroid stimulating agent; ESR = erythrocyte sedimentation rate; IVIG = intravenous immunoglobulins; N/A = not applicable.