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

From: Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

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.
  1. 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
  2. aRandomly selected patients and not all patient at the hospital