Table 1:
reported RAC2 mutations
| cDNA | Protein | Age at presentation | Presentation | References |
|---|---|---|---|---|
| c.169C > A | p.D57N | 1 mo | LAD-like | [40, 41] |
| c.169C > A | p.D57N | NBS | LAD-like | [43, 44] |
| c.168G > A# | p.W56* | 1 yr | CVID | [45] |
| c.168G > A# | p.W56* | 7 yr | CVID | [45] |
| c.86C > G | p.P29R | 1 yr | CVID | [46] |
| c.101C > A | p.P34H | 2 yr | CVID | [47] |
| c.101C > A | p.P34H | 2 yr | CVID | [47] |
| c.101C > A | p.P34H | 2 yr | CVID | [47] |
| c.184G > A | p.E62K | 2 mo | CVID | [48] |
| c.184G > A | p.E62K | NBS | CVID | [48] |
| c.184G > A | p.E62K | 4 yr | CVID | [48] |
| c.184G > A | p.E62K | n.d. | CVID | [49] |
| c.184G > A | p.E62K | 9 yr | CVID | [49] |
| c.184G > A | p.E62K | 1.5 yr | CVID | [49] |
| c.275A > C | p.N92T | 4 mo | CVID | [50] |
| c.34G > A | p.G12R | 3 d | SCID | [51] |
| c.34G > A | p.G12R | 10 d | SCID | [51] |
| c.34G > A | p.G12R | 9 d | SCID | [51] |
| c.182A > G | p.Q61R | 2 d | SCID | [52] |
# homozygous, NBS, newborn screening; n.d., not determined.