Expression of mutant NEMO in various cell lineages for the mother of each XL-EDA-ID patient
| Sample . | Mutation . | Analysis . | Subtype . | Mutant type, % (proportion) . |
|---|---|---|---|---|
| Mother of patients 1 and 2 | Duplication | FACS | CD3 | 0 |
| CD14 | 0 | |||
| CD19 | 0 | |||
| Mother of patient 3 | D311E | FACS | CD3 | 13 |
| CD3− | 54 | |||
| Subcloning | CD3 | 22 (6/27) | ||
| CD3− | 55 (12/22) | |||
| Mother of patient 4 | A169P | Subcloning | CD3 | 52 (11/21) |
| CD14 | 58 (11/19) | |||
| CD19 | 42 (5/12) | |||
| Mother of patient 8 | Q348X | Subcloning | CD3 | 0 (0/26) |
| CD14 | 17 (3/18) | |||
| CD19 | 0 (0/18) | |||
| Mother of patient 10 | 1167insC | Subcloning | CD3 | 18 (7/39) |
| CD14 | 12 (5/43) | |||
| CD19 | 27 (12/44) |
| Sample . | Mutation . | Analysis . | Subtype . | Mutant type, % (proportion) . |
|---|---|---|---|---|
| Mother of patients 1 and 2 | Duplication | FACS | CD3 | 0 |
| CD14 | 0 | |||
| CD19 | 0 | |||
| Mother of patient 3 | D311E | FACS | CD3 | 13 |
| CD3− | 54 | |||
| Subcloning | CD3 | 22 (6/27) | ||
| CD3− | 55 (12/22) | |||
| Mother of patient 4 | A169P | Subcloning | CD3 | 52 (11/21) |
| CD14 | 58 (11/19) | |||
| CD19 | 42 (5/12) | |||
| Mother of patient 8 | Q348X | Subcloning | CD3 | 0 (0/26) |
| CD14 | 17 (3/18) | |||
| CD19 | 0 (0/18) | |||
| Mother of patient 10 | 1167insC | Subcloning | CD3 | 18 (7/39) |
| CD14 | 12 (5/43) | |||
| CD19 | 27 (12/44) |
Data are shown as either the percentages of NEMOnormal cells, as assessed by flow cytometry, or as the ratio of clones containing wild-type NEMO to the total number of clones, as analyzed by subcloning and sequencing analysis.