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Table 2 Comparison of clinical features among AGS, soJIA, and CINCA

From: Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect

Clinical features Our Patient Other AGS [2, 3] soJIA [4,5,6] CINCA [7, 8]
Onset within the first year of life no common rare common
Fever frequently often rare common common
Preserved or normal intelligence yes less common yes less common
Mental retardation no common rare common
Joint swelling yes rare common common
Arthralgia yes rare common common
Destructive arthritis no rare common common
Chilblains yes common NR rare
Urticarial rash no rare less common common
Salmon-pink rash no rare common less common
Conjunctivitis no none less common common
Visual damage no less common rare common
Sensor neural deafness no rare NR common
Progressive chronic meningitis no rare NR common
Auto-inflammatory manifestations yes less common common common
Auto-immune manifestations no common rare none
Severe intra-uterine growth retardation no common NR rare
Microcephaly no common NR rare
Psychomotor retarded not obvious common rare common
Feeding difficulties no common NR less common
Growth retardation yes common less common common
Hepatosplenomegaly no common common common
Cerebral atrophy milder common NR common
White matter abnormalities yes common NR less common
Intracranial calcification yes common NR none
Chronic kidney disease yes none rare common
Renal amyloidosis not yet none rare common
Leukocytosis no rare common common
C-reactive protein significantly elevated rare significantly elevated significantly elevated
Erythrocyte sedimentation significantly elevated less common significantly elevated significantly elevated
Ferritin normal normal significantly elevated in MAS significantly elevated in MAS
Triglycerides normal normal elevated in MAS elevated in MAS
  1. AGS Aicardi-Goutières, SoJIA Systemic juvenile idiopathic arthritis, CINCA onset chronic infantile neurologic, cutaneous, and arthritis syndrome, NR not reported, MAS macrophage activation syndrome