Table 2.
List of the patients of our cohort with summary of the underlying affected gene, and first clinical presentation
| 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. |
FMF familial Mediterranean fever; TRAPS tumor necrosis factor receptor-associated periodic syndrome; MKD Mevalonate kinase deficiency; HIDS hyperimmunoglobulinemia D syndrome; NOMID neonatal onset multisystem inflammatory disease; MWS Muckle-Wells syndrome; PAPA pyogenic arthritis, pyoderma gangrenosum and acne; DIRA deficiency of interleukin-1 receptor antagonist; DADA2 deficiency of adenosine deaminase type 2; IL10 def interleukin 10 deficiency; MAS macrophage activation syndrome; HA20 deficiency haploinsufficiency of A20; SIFD sideroblastic anemia with B cell immunodeficiency, periodic fever, and developmental delay
aRandomly selected patients and not all patient at the hospital