Table 2 Summary of clinical characteristics, treatment, and genotype in the 7 subjects with ADA2 deficiency from China

Gender

female

male

male

male

female

male

female

Age at onset/diagnosis

3y/6y

9y/16y

2 m/6y

6 m/1y

1y/5y

4y/8y

3 m/13 m

Paternal

c.1232A > G,

p.Y411C^a

c.13G > C,

p.G5R^a

c.878A > C,

p.H293P^a

c.506G > A,

p.R169Q^a

c.254A > T,

p.N85I^a

c.1072G > A,

p.G358R

c.1211 T > C,

p.F404S

Maternal

c.983A > T,

p.N328I

Exon7del^a

c.263A > G,

p.Y88C

c.393delG,

p.R131Sfs^b52

c.851G > T,

p.G284V

c.142G > A,

p.G48R

c.1114G > A,

p.V372M

ADA2(U/L)

Not tested

0

0.67^b

0.2

0

Not tested

Not tested

ADA2(U/L) of Father/Mother

Not tested

Not tested / 1.58

5.86/3.01^b

1.8/3.44

1.91/2.17

Not tested

Not tested

total ADA(U/L)

Not tested

3.45

Unscanned

3.64

3.61

Not tested

Not tested

Fever/Age at onset

Yes/3y

Yes/14y

Yes/2 m

Yes/6 m

Yes/2y

YES/4y

Yes/3 m

Skin symptom

Yes/3y

Yes/9y

Yes/2 m

Yes/7 m

Yes/2y

YES/4y

Yes/3 m

Erythema (on both lower limbs)

Erythema (Hip, all four limbs)

Erythematous papule (on face)

Livedo reticularis (on both lower limbs)

Erythema nodosum and Livedo reticularis (on both lower limbs)

Erythema nodosum (face and all four limbs)

Livedo reticularis (on left lower limbs)

Erythema (on both lower limbs)

Necrosis (on upper extremities)

upper extremities

Neurological involvement

No

No

No

No

2y/ hemorrhagic stroke at left basal ganglia

Eye external oblique (right eye), abnormal gait

4y/ ischemic stroke

blepharoptosis (both eyes), Eye external oblique, abnormal gait

1y/ ischemic stroke at right thalamus blurred vision (right eye)

Abdominal pain

Yes/3y

Yes/9y

No

No

Yes/5y

No

No

Nephrological involvement

No

Unilateral Hydronephrosis(left)

Hypertension and Microalbuminuria

No

No

No

No

Arthritis

No

No

No

No

2y/ bilateral ankle joint

4y/ bilateral ankle joint

No

Growth retardation

No

No

No

YES/1y2m

Wt 7.6 kg(<P3)

Ht 67.5 cm(<P3)

No

No

YES/1y

(unspecified)

Oral aphthous

No

No

No

No

Yes/2y

No

No

WBC(× 10⁹/L)

4.14

4.79

9.06

21

15.51

7

N/A

HGB (g/L)

122

124

120

98

132

90

Anemia

(unspecified)

PLT(×10⁹/L)

224

118

429

132

392

413

454

CRP (mg/L)

3

11

80

43

115

59

49.98

ESR (mm/h)

9

6

95

49

74

16

N/A

IL-6 (pg/ml)

N/A

24.9

Not tested

33.3

230

N/A

120.85

IL-8 (pg/ml)

N/A

N/A

Not tested

11

27

N/A

135.25

TNF-a (pg/ml)

N/A

16.6

Not tested

22.8

41.6

23.3

2.79

IgG (g/L)

5.33

6.84

1.92↓

6.95

6.81

Low(unspecified)

10.24

IgA (g/L)

0.46

0.95

0.31

0.66

0.41

N/A

0.58

IgM (g/L)

0.31↓

0.23↓

0.17↓

1.07

0.56

N/A

0.72

IgE (KU/L)

36.3

64.5

27.14

24

Unscanned

N/A

N/A

ANA

Negative

Negative

6y/ANA 1:100; SSA/AMA (±)

Negative

Negative

N/A

N/A

CD3%

70.5%

76.8%

69.3%

22%

84.5%

N/A

51.8%

CD4%

42.2%

28.3%

28.0%

14%

49.4%

N/A

30.05%

CD8%

21.7%

40.6%

28.4%

7.4%

31.6%

N/A

18.45%

B%

23.5%

16.3%

24.8%

65%

8.3%

N/A

26.49%

NK%

5.6%

4.8%

5.8%

10.7%

6.5%

N/A

20.63%

Previous treatment

–

CS, MTX

CS, IVIG

CS, IVIG

CS, Colchicine, IVIG, TCZ

CS, MTX, CTX

CS, TCZ

Current treatment

Dipyridamole

MMF

MTX

Adalimumab

Etanercept

Anti TNF-α (unspecified)

HSCT