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

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

Characteristics	HA20^5–15 (n = 54^a)	(%)	BD (n = 520)	(%)	p	Odds ratio	95% CI
Age at onset^b (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		0.37^f
Gender male	20/54	37.0	241/520	46.3	0.19	0.68	0.38	1.22
Familial^c	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 involvement^d	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 diseases^e	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

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
^aIncludes previously reported^5–15 and current cases with genetically confirmed HA20
^bAge at “symptom onset” for HA20 and “diagnosis” for BD
^cRatio of the pedigree with familial aggregation among all families
^dCases with gastrointestinal lesions revealed by imaging (endoscope, CT)
^eAutoimmune diseases including systemic diseases (rheumatic diseases) and organ-specific diseases (e.g.,. Hashimoto disease, insulin-dependent diabetes, etc.)
^fAnalyzed using the unpaired t test. Other variables were analyzed using the chi-square test

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