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

From: Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China

  P1 P2 P3 P4 P5 P6 [13] P7 [14]
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
CECR1 mutations
Paternal c.1232A > G,
p.Y411Ca
c.13G > C,
p.G5Ra
c.878A > C,
p.H293Pa
c.506G > A,
p.R169Qa
c.254A > T,
p.N85Ia
c.1072G > A,
p.G358R
c.1211 T > C,
p.F404S
Maternal c.983A > T,
p.N328I
Exon7dela c.263A > G,
p.Y88C
c.393delG,
p.R131Sfsb52
c.851G > T,
p.G284V
c.142G > A,
p.G48R
c.1114G > A,
p.V372M
ADA2(U/L) Not tested 0 0.67b 0.2 0 Not tested Not tested
ADA2(U/L) of Father/Mother Not tested Not tested / 1.58 5.86/3.01b 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
  1. a, reported previously in non-Chinese DADA2 patients; b, tested by ELISA at local hospital
  2. Reference values for immunoglobulins (aged 1-6y): IgG 5-12 g/L, IgA 0.2–1.08 g/L, IgM 0.5–1.99 g/L
  3. N/A Not available
  4. CS Corticosteroid, CTX Cyclophosphamide, IVIG Intravenous Ig, NSAID Nonsteroidal anti-inflammatory drugs, MTX Methotrexate, MMF Mycophenolate mofetil, TCZ Tocilizumab, HSCT Hematopoietic stem cell transplantation