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Table 1 Clinical and laboratory characteristics of patients

From: Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation

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

  1. Legend: study results are reported in the last three columns. RAS recurrent aphthous stomatitis; BD and BD-i Behçet’s Disease and incomplete Behçet’s Disease; GPA Granulomatosis with polyangiitis; CRP C reactive protein; ESR erythrocyte sedimentation rate; ANA antinuclear antibodies; dsDNA antibodies to double stranded DNA; HCQ Hydroxychloroquine; MMF mycophenolate mofetil; GC glucocorticoids; ADA adalimumab; HSP Henoch-Schönlein purpura; N normal; “-“: negative result;” +”: positive result; n.d. not done; *: criteria items; §: score
  2. PEDBD Consensus classification of Pediatric Behçet’s disease. Diagnosis of BD is performed with three of six items, whereas two of six items classify a patient as incomplete BD (BD-i). ACR American College of Rheumatology. To classify a patient with SLE, 4 criteria are required, either serially or simultaneously. ACR-EULAR American College of Rheumatology and the European League Against Rheumatism. ANA at a titer > = 1:80 on Hep-2 cells or an equivalent positive test (ever) is the entry condition. SLE classification requires at least one clinical criteria and 10 points are (Additional file 2: Table S2, S3 and S4)