Table 1 (abstract P1046). Clinical characteristics of the patients

Patient 1

CANDLE

(PSMB8)

Neonatal period:

Fever, chondritis, aseptic meningitis, joint limitations, erythematous plaques,lipodystrophy, lymphadenopathy, splenomegaly and hepatomegaly

Anemia, ESR 122 mm/h, CRP 100 mg/L, AST 55 U/L, ALT 51 U/L,

CINCA

Anakinra (no)

Tocilizumab (no)

Baricitinib (yes)

Patient 2

ISG15 defficiency (ISG15)

6 months:

Intermittent fever, severe cutaneous ulcerations skin, chorioretinitis, brain calcifications

CRP 75 mg/L, HLA B51 (+), ANA (-), ANCA (-), AST 80 U/L, ALT 65 U/L

Early onset Behçet disease

Corticosteroids (yes)

Etanercept (partial)

Anakinra (no)

Adalimumab (no: ADA)

Tocilizumab (partial)

Patient 3

FCL (TREX1)

6 years: Raynaud, amputation of phalanx, inflammatory arthritis and chilblains

Normal blood counts,

Inmunology (-)

JIA

Etanercept (no)

Tofacitinb (yes)

Patient 4

DADA2

(CECR1)

7 months:

intermittent fever,

livedo reticularis,

paralysis of VI craneal nerve,

Raynaud

CRP 16 mg/L, IgG 567 mg/dl, IgA 22 mg/dlIgM 32 mg/dl, Total lymphocytes 950/μL

ANA and ANCA (-)

PAN

ASA

Etanercept (yes)

Patient 5

DADA2

(CECR1)

5 years:

Intermittent fever,

livedo resticularis,

paralysis of VI craneal nerve,

painful nodular lesions, arthromyalgia, abdominalgia, Raynaud, peripheral neuropathy

ESR 27 mm/h; RCP 87.6 mg/L ANA and ANCA (-)

PAN

ASA

Corticosteroids (yes)

Cyclophosphamide (no)

Etanercept (unknown)

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