Disease | No. of patients | Gender | Gene mutation | Age symptoms started | First clinical presentation |
---|---|---|---|---|---|
M:F | |||||
FMF | 14a | 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. |