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Table 2 Clinical features of haploinsufficiency of A20 (HA20) and Behçet’s disease (BD)

From: Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease

Characteristics HA205–15 (n = 54a) (%) BD (n = 520) (%) p Odds ratio 95% CI
Age at onsetb (years) (mean ± SD) 6.0 ± 6.5   36.4 ± 12.3   < 0.001 f    
Childhood onset (< 16 years old) 49/53 92.5 10/520 1.9 < 0.001 624.75 188.92 2065.98
Observation period (years) (mean ± SD) 15.5 ± 14.9   13.7 ± 12.0   0.37f    
Gender male 20/54 37.0 241/520 46.3 0.19 0.68 0.38 1.22
Familialc 15/25 60.0 19/332 5.7 < 0.001 24.71 9.80 62.29
Recurrent fever 37/51 72.5 39/364 10.7 < 0.001 22.02 10.99 44.30
Oral ulcer 46/52 88.5 518/520 99.6 < 0.001 0.03 0.01 0.15
Genital ulcer 34/52 65.4 372/520 71.5 0.35 0.75 0.41 1.37
Eye involvement 5/52 9.6 330/520 63.5 < 0.001 0.06 0.02 0.16
Skin involvement 28/52 53.8 461/520 88.7 < 0.001 0.15 0.08 0.27
Arthritis 21/54 38.9 245/520 47.1 0.25 0.71 0.40 1.27
Gastrointestinal involvementd 22/53 41.5 78/520 15.0 < 0.001 4.02 2.21 7.31
Vascular involvement 7/53 13.2 41/520 7.9 0.18 1.78 0.76 4.19
CNS involvement 5/53 9.4 57/520 11.0 0.73 0.85 0.33 2.21
Autoimmune diseasese 26/54 48.1 36/520 9.1 < 0.001 9.26 4.91 17.46
Anti-nuclear antibody (160×) 3/12 25.0 15/288 5.2 0.03 6.07 1.49 24.76
HLA-B51 3/11 27.3 195/408 47.8 0.23 0.41 0.11 1.57
Past/current colchicine use 29/53 54.7 374/518 72.2 0.008 0.47 0.26 0.83
Past/current bDMARDs use 19/53 35.8 89/520 17.1 0.001 2.71 1.48 4.96
Fulfilling ISG criteria for BD 23/54 42.6 468/520 90.0 < 0.001 0.08 0.05 0.15
  1. BD Behçet’s disease, bDMARDs biological disease modifying anti-rheumatic drugs, CNS central nervous system, HA20 haploinsufficiency of A20, ISG International Study Group. Significant results are highlighted in italics
  2. aIncludes previously reported5–15 and current cases with genetically confirmed HA20
  3. bAge at “symptom onset” for HA20 and “diagnosis” for BD
  4. cRatio of the pedigree with familial aggregation among all families
  5. dCases with gastrointestinal lesions revealed by imaging (endoscope, CT)
  6. eAutoimmune diseases including systemic diseases (rheumatic diseases) and organ-specific diseases (e.g.,. Hashimoto disease, insulin-dependent diabetes, etc.)
  7. fAnalyzed using the unpaired t test. Other variables were analyzed using the chi-square test