Analysis of NEMO gene mosaicism in various cell lineages for each patient
| Patient . | Mutation . | Age at analysis . | CD4, % (proportion) . | CD8, % (proportion) . | CD14, % (proportion) . | CD19, % (proportion) . |
|---|---|---|---|---|---|---|
| 1 | Duplication | 2 y | 90 | 100 | 0 | 4.0 |
| 2 | Duplication | 15 mo | 45 | 66 | 0 | 4.0 |
| 3 | D311E | 3 y | 2.4 | 9.9 | 0 | 1.2 |
| 4 | A169P | 12 y | 0 (0/19) | 24 (9/37) | 0 (0/19) | 0 (0/47) |
| 5 | L227P | 3 y | 0 (0/25) | 0 (0/35) | 0 (0/30) | 0 (0/25) |
| 6 | R182P | 4 y | 18 (5/28) | 17 (9/52) | 0 (0/27) | 0 (0/33) |
| 7 | R175P | 6 y | 0.4 (1/25) | 39 (11/28) | 0 (0/28) | 0 (0/25) |
| 8 | Q348X | 8 y | 38 (6/16) | 47 (9/19) | 0 (0/33) | 0 (0/25) |
| 9 | R175P | 15 y | 30 (9/30) | 36 (12/33) | 0 (0/23) | 0 (0/14) |
| 10 | 1167 ins C | 9 mo | PBMC 9.3 (4/43) | |||
| Patient . | Mutation . | Age at analysis . | CD4, % (proportion) . | CD8, % (proportion) . | CD14, % (proportion) . | CD19, % (proportion) . |
|---|---|---|---|---|---|---|
| 1 | Duplication | 2 y | 90 | 100 | 0 | 4.0 |
| 2 | Duplication | 15 mo | 45 | 66 | 0 | 4.0 |
| 3 | D311E | 3 y | 2.4 | 9.9 | 0 | 1.2 |
| 4 | A169P | 12 y | 0 (0/19) | 24 (9/37) | 0 (0/19) | 0 (0/47) |
| 5 | L227P | 3 y | 0 (0/25) | 0 (0/35) | 0 (0/30) | 0 (0/25) |
| 6 | R182P | 4 y | 18 (5/28) | 17 (9/52) | 0 (0/27) | 0 (0/33) |
| 7 | R175P | 6 y | 0.4 (1/25) | 39 (11/28) | 0 (0/28) | 0 (0/25) |
| 8 | Q348X | 8 y | 38 (6/16) | 47 (9/19) | 0 (0/33) | 0 (0/25) |
| 9 | R175P | 15 y | 30 (9/30) | 36 (12/33) | 0 (0/23) | 0 (0/14) |
| 10 | 1167 ins C | 9 mo | PBMC 9.3 (4/43) | |||
For patients 1 to 3, data represent the percentages of NEMOnormal cells in each lineage, as assessed by flow cytometry. For patients 4 to 10, the ratio indicates the number of wild-type NEMO clones in various cell lineages as compared with the total number of clones analyzed, based on subcloning and sequencing analysis.