Table 2 Results of investigations- non-respiratory Measurements

Quantitative Igs

Normal

Normal

Normal

Normal

Normal

ANA

1:160 (fine speckled)

1:40

1:40

1:40

1:40

RF (IU/mL) (< 20IU/ml)

16

< 10

< 10

< 10

< 10

Anti-CCP (units) (< 20 units)

20

< 18

< 18

< 18

< 18

DsDNA (IU/mL) (< 8IU/ml)

1

1

1

1

1

ANCA

< 0.2

< 0.2

< 0.2

< 0.2

< 0.2

Complements (C3, C4)

Normal

0.82, 0.13

Normal

Normal

Normal

CK (U/L) (< 275U/L)

46

20

20

10

138

ESR (mm/hr) (< 20 mm/hr)

71

2

120

32

2

CRP (mg/L) (< 10 mg/L)

20.8

0.6

198

56

54.5

Ferritin (ug/L) (< 272 ug/L)

64

105

2492

120

110

Infectious serology

Negative

Negative

Negative

Negative

Negative

Stool examination

Normal

Normal

Normal

Normal

Normal

Bone marrow, cytogenetics

Normal

Normal

Normal

Normal

Normal

Genetic results

(C.44 2G > C, p. Glu14 AGIN) in MEFV gene

(c.2014 C > T, p. Arg702Trp) and (c.2798 + 58 C > T) in NOD2 gene

(c.598G > A, p. Val200Me) in NLRP3 gene

c.1510 C > T (p.Leu504Phe) in

LPIN2

Gene

MEFV: c442G > C (p.Glu148Gl)

Asthma therapy

Budesonie + Fomoterol DPI

Budesonide + Formoterol DPI PRN

Budesonide + Formoterol DPI PRN

Budesonide + Formoterol DPI

Momentasone + Formoterol MDI

benralizumab

Autoinflammatory therapy

Colchicine

Colchicine

Colchicine

Anakinra recommended

Colchicine recommended