Table 1

Characteristics of patients with A20 haploinsufficiency

Patient noFamilySexCurrent ageAge at onsetPrevious diagnosisPrevious treatmentCurrent treatment
1Family 1F25 years10 monthsJIA, Behçet diseaseCS, MTX, CYSMTX, thalidomide
2Family 1F23 years15 monthsJIA, Behçet diseaseCS, MTX, CYS, AZA, thalidomide, IVIG, ETNIFX
3Family 1F51 yearsEarly 20sRheumatoid arthritis (RF−), Behçet diseaseNoneColchicine
4Family 2F25 years10 yearsJIA, undifferentiated connective tissue disease/cutaneous vasculitis, SLE with CNS vasculitisCS, MMF, ETN, thalidomide, RTX, IFX, MTX, ADA, cyclo, IVIG, autologous haematopoietic stem cell transplantAnakinra, AZA, CS
5Family 2F29 yearsAround 8 yearsBehçet disease, lupus nephritisCS, colchicine, ETN, hydroxychloroquineAnakinra
6Family 2F51 yearsAround 6 yearsRheumatic fever, arthritisNoneAnakinra
7Family 2F56 yearsAround 6 yearsNoneAnakinra
8Family 3M9 years9 monthsBehçet diseaseCS, colchicine, AZAColchicine
9Family 3M46 years?Behçet diseaseOn treatment (not specified)
10Family 4F15 years8 weeksSuspicion of PFAPACS, colchicine, ETN, anakinra, ADA, MTXTofacitinib
11Family 5F17 yearsAround 4 yearsSuspicion of Behçet diseaseCYS, dapsone, CS, AZA, IVIG for Ig deficiencyIFX
12Family 5F47 yearsInfancySuspicion of Behçet diseaseCS, colchicine, AZA, IFX, IVIG for Ig deficiencyNone
13Family 6F38 years29 yearsBehçet diseaseNoneColchicine
14Family 6F19 years15 yearsSuspicion of Behçet diseaseNoneColchicine
15Family 6F15 years13 yearsSuspicion of Behçet diseaseNoneColchicine
16Family 7M(8 years)†1 weekCrohn’s disease, Behçet diseaseCS, mesalamine, dapsone, MTX, AZA, colchicine, IFX, ADA, certolizumab, anakinra, canakinumab, tacrolimus, IVIG, tocilizumabNA
  • 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.