From: Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part three
Sl. No | Age at onset | Predominant clinical manifestations | ANA | Anti- dsDNA (IU/ml) | C1q | C3 | C4 | CH 50 | Mutation analysis |
---|---|---|---|---|---|---|---|---|---|
1 | 2.5 | Cutaneous, CNS | 4+ (s) | 1.5 | 0.24 | 1610 | 420 | 0 | C1QA (NM_015991) c.622C > T, p.Q208X |
Brother of 1 | a | Asymptomatic | 3+ (s) | 1.0 | 0.27 | 1970 | 400 | 0 | C1QA (NM_015991) c.622C > T, p.Q208X |
2 | 1.5 | Cutaneous | 3+ (s) | 7.7 | 0.37 | 2500 | 500 | 0.09 | C1QA (c.164-2A > C) |
3 | 2 | Muco-cutaneous | 4+ (s) | 6 | 3.3 | 156 | 36 | 0.1 | - |
4 | 3 | Renal | 4+ (s) | 16 | 30 | 47 | <3 | 0.33 | - |
5 | 0.7 | Cutaneous | 3+ (s) | 109 | 164 | 86 | 10 | 1.6 | - |