Table 1

Characteristics of patients with A20 haploinsufficiency

Patient no	Family	Sex	Current age	Age at onset	Previous diagnosis	Previous treatment	Current treatment
1	Family 1	F	25 years	10 months	JIA, Behçet disease	CS, MTX, CYS	MTX, thalidomide
2	Family 1	F	23 years	15 months	JIA, Behçet disease	CS, MTX, CYS, AZA, thalidomide, IVIG, ETN	IFX
3	Family 1	F	51 years	Early 20s	Rheumatoid arthritis (RF−), Behçet disease	None	Colchicine
4	Family 2	F	25 years	10 years	JIA, undifferentiated connective tissue disease/cutaneous vasculitis, SLE with CNS vasculitis	CS, MMF, ETN, thalidomide, RTX, IFX, MTX, ADA, cyclo, IVIG, autologous haematopoietic stem cell transplant	Anakinra, AZA, CS
5	Family 2	F	29 years	Around 8 years	Behçet disease, lupus nephritis	CS, colchicine, ETN, hydroxychloroquine	Anakinra
6	Family 2	F	51 years	Around 6 years	Rheumatic fever, arthritis	None	Anakinra
7	Family 2	F	56 years	Around 6 years		None	Anakinra
8	Family 3	M	9 years	9 months	Behçet disease	CS, colchicine, AZA	Colchicine
9	Family 3	M	46 years	?	Behçet disease		On treatment (not specified)
10	Family 4	F	15 years	8 weeks	Suspicion of PFAPA	CS, colchicine, ETN, anakinra, ADA, MTX	Tofacitinib
11	Family 5	F	17 years	Around 4 years	Suspicion of Behçet disease	CYS, dapsone, CS, AZA, IVIG for Ig deficiency	IFX
12	Family 5	F	47 years	Infancy	Suspicion of Behçet disease	CS, colchicine, AZA, IFX, IVIG for Ig deficiency	None
13	Family 6	F	38 years	29 years	Behçet disease	None	Colchicine
14	Family 6	F	19 years	15 years	Suspicion of Behçet disease	None	Colchicine
15	Family 6	F	15 years	13 years	Suspicion of Behçet disease	None	Colchicine
16	Family 7	M	(8 years)†	1 week	Crohn’s disease, Behçet disease	CS, mesalamine, dapsone, MTX, AZA, colchicine, IFX, ADA, certolizumab, anakinra, canakinumab, tacrolimus, IVIG, tocilizumab	NA

ADA, adalimumab; AZA, azathioprine; CNS, central nervous system; CS, systemic corticosteroids; cyclo, cyclophosphamide; CYS, ciclosporin; ETN, etanercept; F, female; IFX, infliximab; IVIG, intravenous immunoglobulin; JIA, juvenile idiopathic arthritis; M, male; MTX, methotrexate; NA, not applicable; PFAPA, periodic fever, aphthous stomatitis, pharyngitis, adenitis; RF, rheumatoid factor; SLE, systemic lupus erythematosus.