Table 2 List of the patients of our cohort with summary of the underlying affected gene, and first clinical presentation

FMF

14^a

9:5

MEFV gene

Early childhood

Fever, abdominal pain, cervical lymphadenitis, multiple joints pain (hips, knees, ankles, PIPJ)

TRAPS

4

2:2

TNFRSF1A

Childhood

Cervical spine, knees, hips and elbow pain

MKD/HIDS

2

0:2

MVK gene

1 and 5 years

Cervical lymphadenitis, abdominal pain, N/V, arthralgia, myalgia, headache, seizure

NOMID

3

1:2

CAS1 (NLRP3)

2, 6, 9 months

Fever, skin rash, Joint swelling: knees, ankles, elbows, wrists, toes, fingers

MWS

1

0:1

CAS1 (NLRP3)

9 years

Headache

Blau

1

1:0

NOD2

5 months

Rash then swollen joints: knees, ankles, wrists and hands

PAPA

1

1:0

PSTPIP1

5 years

Right knee septic arthritis

DIRA

1

1:0

IL1RN

Newborn

Pustular psoriasis, osteomyelitis

NLRC4-MAS

1

0:1

NLRC4

5 months

Recurrent fever, microcytic anemia, hyperferritinemia, gluten allergy

SIFD

1

0:1

TRNT1

9 weeks

Recurrent fever, profound sensorineural hearing loss and sideroblastic anemia on bone biopsy

HA20 deficiency

2

0:2

TNFAIP3

10 and 15 months

Perianal redness, polyarthritis and vaginal, perineal and mouth ulcers

IL10 def

1

0:1

IL10RB

3 weeks

Abdominal distension and fever

DADA2

1

1:0

CECR1

5 years

Fever, livedo reticularis, stroke, erythema nodosum, medium vessel vasculitis and muscle pain

Aicardi-Goutieres syndrome

1

1:0

SAMHD 1

2 years

Arthritis, nodular rash, chilblains and dysmorphic facies- cold induced reddish papules of the ears, dry red eyes.