Distribution of mutations in patients with RAGdeficiency
| Mutation type . | T-B-SCID (No. alleles = 18) . | SCID with MFT (No. alleles = 14) . | Atypical SCID/OS (No. alleles = 22) . | OS (No. alleles = 34) . |
|---|---|---|---|---|
| Missense (%) | 3 (16.7) | 7 (50) | 20 (95.2) | 29 (85.3) |
| Nonsense (%) | 8 (44.4) | 5 (35.7) | 0 (0) | 2 (5.9) |
| Frameshift (%) | 7 (38.9) | 2 (14.3) | 1 (2.4) | 3 (8.8) |
| Gross deletion (%) | 0 (0) | 0 (0) | 1 (2.4) | 0 (0) |
| Mutation type . | T-B-SCID (No. alleles = 18) . | SCID with MFT (No. alleles = 14) . | Atypical SCID/OS (No. alleles = 22) . | OS (No. alleles = 34) . |
|---|---|---|---|---|
| Missense (%) | 3 (16.7) | 7 (50) | 20 (95.2) | 29 (85.3) |
| Nonsense (%) | 8 (44.4) | 5 (35.7) | 0 (0) | 2 (5.9) |
| Frameshift (%) | 7 (38.9) | 2 (14.3) | 1 (2.4) | 3 (8.8) |
| Gross deletion (%) | 0 (0) | 0 (0) | 1 (2.4) | 0 (0) |