Table 1 (abstract P1004). See text for description

SoJIA

31

46%

Negative HLH gene done for patients with MAS

good response to Anakinra or Tocilizumab

CRMO

10

15%

Negative geneexcept 1 patient with CRMO and Familial hyperphosphatemic tumoral calcinosis who has homozygous mutation in GALNT3 gene

3 patients with mild CRMO responded to NSAIDs only.

2 patients required either pamidronate or Methotrexate.

4 patients required combination of Infliximab and Methotrexate.

1 patient who had unidentified auto- inflammatory disease responded partially to Abatacept but not to Anakinra, Adalimumab or Tocilizumab.

FMF

5

7%

Heterozygous mutation in MEFV gene (Met694Val)

Good response to Colchicine

PFAPA

5

8%

Negative periodic fever gene panel

4 patients received no treatments with less frequent attacks during follow up and one free of attacks after tonsillectomy

HIDS

4

6%

Mutation in MVK gene

3 patients treated with Anakinra showed good response

1 patient had infrequent attacks not on treatment

NOMID

2

3%

Negative gene

Good response to anti IL-1 therapy (Anakinra and Canakinumab)

Interferonopathies

2 SAVI

1 AGS

5%

Mutation in TMEM-173 gene (STING gene) for SAVI and RNASEH2A for AGS

1 SAVI patient treated with Ruxolitinib with significant improvement while the other died

AGS treated with Ruxolitinib with good response

DADA2

3

5%

mutation in CECR1 gene

2 patients treated with adalimumab and GCSF with good response, and the 3rd patient recently diagnosed

DITRA

1

1%

mutation inIL36RN gene

Response was lost on etanercept, Anakinra and then Ustekinamab

Currently on Adalimumab with no relapse so far

Blau syndrome + crohn’s disease

1

1%

mutations in NOD2/CARD15 gene

Treated with Azathioprine and steroid with partial response