Table 2.
Demographic and clinical characteristics of newly described patients with DGKE mutations
| ID | Kindred | Age at Diagnosis, yr | Sex | Origin | Parental Consanguinity | DGKE Mutations | C Activation | Histologic Diagnosis |
|---|---|---|---|---|---|---|---|---|
| 1.1 | 1 | 0.7 | M | United Arab Emirates | Yes | p.K109E/p.K109E | No | Not done |
| 1.2 | 1 | 2.0 | M | United Arab Emirates | Yes | p.K109E/p.K109E | No | Not done |
| 2.1 | 2 | 0.3 | M | Europe | No | p.W322*/p.W322* | No | TMA/MPGN |
| 2.2 | 2 | 0.2 | F | Europe | No | p.W322*/p.W322* | No | TMA |
| 3.1 | 3 | 4.9 | M | Europe | No | p.IVS5+40/p.W322* | No | TMA |
| 4.1 | 4 | 0.5 | M | Asia | No | p.T204Nfs*4/p.C167W | No | Not done |
| 5.1 | 5 | 0.6 | F | Asia | No | p.IVS11+2/p.IVS11+2 | Yes | Not done |
| 6.1 | 6 | 2.0 | F | Europe | No | p.I187Ffs*6/p.W322* | Yes | TMA |
| 7.1 | 7 | 0.4 | F | Europe | No | p.W322*/p.W322* | No | Not done |
| 8.1 | 8 | 2.5 | M | Europe | No | p.W322*/p.W322* | Yes | TMA/MPGN |
M, male; F, female; C, complement.