Patient | Sex | Age at enrollment (y) | Onset (y) | RAS/year | Other clinical characteristics | Laboratory | HLA B51 | Pathergy | Familial history | Diagnosis | PED BD * | ACR* | ACR EULAR§ | Current therapy | Immunephenotype | IFN score | AA change Gene |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
#1 | F | 17 | 2 | 10–12 | Oral candidiasis, autoimmune thyroiditis and gastritis, hemolytic anemia, polyarthralgia | ESR always ↑ ANA+, dsDNA+, Anti-Gastric Parietal Cell Antibody+ | – | – | GPA (mother) | BD/SLE overlap | 1/6 | 4 | 18 | HCQ | N Stimulated STAT1 ↑ | 29.8 | N574T STAT1 |
#2 | F | 17 | 1.5 | 20–30 | Skin pustulosis | CRP mildly ↑ | + | – | no | BD-i | 2/6 | no | no | Thalidomide | N | 1.3 | T109N PTPN22 |
#3 | F | 7 | 0.5 | 16 | Genital ulcers, recurrent fever, skin pustulosis, arthralgias | ESR always ↑, CRP mildly ↑ | + | – | RAS (aunt), chilblains (father) | BD | 3/6 | no | no | Colchicine, HCQ, topical clindamycin GC | N | 2.4 | no |
#4 | F | 18 | 0.3 | 1 | Genital ulcers, pustulosis, recurrent fever | ESR ↑, IgA ↑ | + | – | no | BD | 3/6 | no | no | Colchicine, GC | N | 0.4 | no |
#5 | F | 13 | 5 | 6 | Necrotic folliculitis with skin ulcers, recurrent fever (no benefit from tonsillectomy) | CRP mildly ↑ | + | n.d. | BD (mother) | BD-i | 2/6 | no | no | Colchicine, topical clindamycin | NK ↑B cells ↓ | 0.7 | T971fs*2 DNASE1L3 |
#6 | M | 20 | 4 | 16 | Abdominal pain, arthralgias, genital ulcers, pustulosis | ESR ↑, CRP ↑, IgA ↑ | + | + | no | BD | 3/6 | no | no | Thalidomide | N | 1.7 | no |
#7 | F | 24 | 12 | 14 | Genital ulcers, folliculitis, arthralgias | ESR ↑ | + | n.d. | no | BD | 3/6 | no | no | Colchicine | N | 0.3 | no |
#8 | F | 15 | 11 | 12 | Genital ulcers, abdominal pain, fatigue | ESR ↑, ANA- | n.d. | – | no | BD-i | 2/6 | no | no | Colchicine, GC | N | 13.3 | no |
#9 | F | 13 | 3 | 4 | Genital ulcers, arthralgias, aortic vasculitis | ESR ↑ | + | + | RAS (mother) | BD | 3/6 | no | no | Colchicine | N | 3.1 | no |
#10 | F | 9 | 6 | 9 | Oral candidiasis, Hepatitis, recurrent paronychia | ESR ↑, ANA+, dsDNA+, Direct Coombs+, Normal complement | – | n.d. | no | SLE | no | 4 | 15 | MMF Colchicine | N, Basal and stimulated STAT1 ↑ | 13.5 | T288A STAT1 |
#11 | F | 23 | 15 | 24 | Erythema nodosum, uveitis, intestinal ulcerations | ESR ↑, IgA ↑ | – | + | no | BD | 4/6 | no | no | ADA | N | 1.5 | no |
#12 | F | 12 | 10 | 4 | Recurrent HSP, lichen vulvar, IgA nephropathy | ESR ↑ | + | – | RAS and IgA nephropathy (mother) | BD-i | 2/6 | no | no | Omega 3 fatty acids | n.d. | 19.1 | no |
#13 | M | 17 | 11 | 4 | Skin ulcers, vein thrombosis, fever (Hughes Stovin Syndrome) | CRP ↑ | + | – | no | BD | 3/6 | no | no | ADA Apremilast | N | 0.2 | no |
#14 | F | 25 | 0.5 | 6 | Genital ulcerations | ESR ↑ | – | – | no | BD-i | 2/6 | no | no | GC | N | 1.2 | no |
#15 | M | 16 | 0.3 | 24 | Fever, perianal ulcerations, skin abscesses, abdominal pain; no benefit from tonsillectomy | ESR ↑, usually normal CRP Fecal calprotectin ↑ | – | – | BD (mother grandmother) | BD | 3/6 | no | no | GC, ADA started after genetic diagnosis | N | 9.4 | Q379X TNFAIP3 |