Age at disease onset | 7 | 0.5 | 1 | 9 | 7 | 7 | 1.5 | 13 |
---|---|---|---|---|---|---|---|---|
Previous diagnosis | PAN | PAN | PAN | PAN | PAN-FMF | PAN-FMF | CAPS, Vasculitis | PAN |
GIS involvement | Yes | Yes | No | Yes | Yes | Yes | No | No |
Cutaneous findings | Yes | Yes | Yes | Yes | Yes | Yes | Yes | No |
Neurologic involvement | Yes | Yes | Yes | Yes | No | No | Yes | Yes |
Neuroimaging findings | Ischemic stroke | Hemorrhagic stroke | Periventricular leucomalasia | Normal | Normal | Cerebral atrophy | İschemic stroke | İschemic stroke |
CECR1 | p.Gly47Arg | p.Gly47Arg | p.Gly47Arg | p.Gly47Val and p.Trp264Ser | p.Gly47Arg | p.Gly47Arg | p.Gly47Arg and p.Arg306Ter | p.Gly47Arg |